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Volume 3; Issue 6
Main
Human Molecular Genetics
Volume 3; Issue 6
Human Molecular Genetics
Volume 3; Issue 6
1
Rapid chromosome identification by oligonucleotide-primed in situ DNA synthesis (PRINS)
Gosden, John
,
Lawson, Diane
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 4.54 MB
Your tags:
english, 1994
2
Identification of two novel mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemia
Ogasawara, Masahito
,
Matsubara, Yoichi
,
Mikami, Hitoshi
,
Narisawa, Kuniaki
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 5.40 MB
Your tags:
english, 1994
3
Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common α-L-iduronidase mutations (W402X and Q70X) among European patients
Bunge, Susanna
,
Kleijer, Wim J.
,
Steglich, Cordula
,
Beck, Michael
,
Zuther, Cornelia
,
Morris, C.Phillip
,
Schwinger, Eberhard
,
Hopwood, John J.
,
Scott, Hamish S.
,
Gal, Andreas
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 1.62 MB
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english, 1994
4
A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene
Guilford, Parry
,
Ayadi, Hamadi
,
Blanchard, Stéphane
,
Chaib, Hassan
,
Paslier, Denis Le
,
Weissenbach, Jean
,
Drira, Mohamed
,
Petit, Christine
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 533 KB
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english, 1994
5
Four novel germ-line mutations in the APC gene detected by heteroduplex analysis
Hamzehloei, Tayebeh
,
West, Sarah P.
,
Chapman, Pam D.
,
Burn, John
,
Curtis, Ann
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 3.53 MB
Your tags:
english, 1994
6
Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia
Lorenz, Claudius
,
Meyer-Kleine, Christof
,
Steinmeyer, Klaus
,
Koch, Manuela C.
,
Jentsch, Thomas J.
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 2.31 MB
Your tags:
english, 1994
7
Identification of a new variant CYP2D6 allele with a single base deletion in exon 3 and its association with the poor metabolizer phenotype
Saxena, Richa
,
Shaw, Gall L.
,
Relling, Mary V.
,
Frame, James N.
,
Moir, Donald T.
,
Evans, William E.
,
Caporaso, Neil
,
Weiffenbach, Barbara
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 3.36 MB
Your tags:
english, 1994
8
Missense mutation in the choroideremia gene
Donnelly, P.
,
Menet, H.
,
Fouanon, C.
,
Herbert, O.
,
Moisan, J.P.
,
Roux, M.G.Le
,
Pascal, O.
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 1.43 MB
Your tags:
english, 1994
9
Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis
Esteban, Jesus
,
Rosen, Daniel R.
,
Bowling, Allen C.
,
Sapp, Peter
,
McKenna-Yasek, D.
,
O'Regan, Jeremiah P.
,
Beal, M.Flint
,
Horvitz, H.Robert
,
Brown, Robert H.
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 1.97 MB
Your tags:
english, 1994
10
Three microsatellite polymorphisms at the recoverin locus on chromosome 17
Wiechmann, A.F.
,
Haro, K.C.
,
Bowden, D.W.
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 91 KB
Your tags:
english, 1994
11
Two mutations, one novel and one frequently observed, in Japanese patients with McArdle's disease
Tsujino, Seiichi
,
Shanske, Sara
,
Goto, Yu-ichi
,
Nonaka, Ikuya
,
DiMauro, Salvatore
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 2.06 MB
Your tags:
english, 1994
12
Isolation and fine mapping of (CA) n repeats from the Xp11.23 and Xp11.4 region
Schindelhauer, D.
,
Achatz, H.
,
Strom, T.M.
,
Ross, M.
,
Carvalho, M.R.S.
,
Meindl, A.
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 106 KB
Your tags:
english, 1994
13
A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17
Greenberg, Jacquie
,
Goliath, Rene
,
Beighton, Peter
,
Ramesar, Rajkumar
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 336 KB
Your tags:
english, 1994
14
Dinucleotide repeat polymorphisms at the DXS85, DXS16 and DXS43 loci
Chang, Y.-P.C.
,
Smith, K.D.
,
Dover, G.J.
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 71 KB
Your tags:
english, 1994
15
Two novel rare frameshift mutations (2423 del G in exon 13 and 1215 del G in exon 7) and one novel rare sequence variation (3271 + 18 C or T) identified in a patient with cystic fibrosis
Romey, Marie-Catherine
,
Desgeorges, Marie
,
Laussel, Maguelone
,
Durand, Marie-France
,
Demaille, Jacques
,
Claustres, Mireille
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 2.49 MB
Your tags:
english, 1994
16
A recurrent 14 bp deletion in the CLCN1 gene associated with generalized myotonia (Becker)
Meyer-Kleine, Christof
,
Ricker, Kenneth
,
Otto, Michael
,
Koch, Manuela C.
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 3.92 MB
Your tags:
english, 1994
17
Characterization of the translocation breakpoint on chromosome 22q12.2 in a patient with neurofibromatosis type 2 (NF2)
Arai, Eiko
,
Ikeuchi, Tatsuro
,
Nakamura, Yusuke
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 3.49 MB
Your tags:
english, 1994
18
A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis
Rosen, Daniel R.
,
Bowling, Allen C.
,
Patterson, David
,
Usdin, Ted B.
,
Sapp, Peter
,
Mezey, Eva
,
McKenna-Yasek, Diane
,
O'Regan, Jerimiah
,
Rahmani, Zohra
,
Ferrante, Robert J.
,
Brownstein, Michael J.
,
Kow
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 5.53 MB
Your tags:
english, 1994
19
A nonsense mutation (R220X) in the α-galactosidase A gene detected in a female carrier of Fabry disease
Meaney, Cathy
,
Blanch, Lianne C.
,
Morris, C.Phillip
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 1.90 MB
Your tags:
english, 1994
20
The Friedreich ataxia region: characterization of two novel genes and reduction of the critical region to 300 kb
Duclos, F.
,
Rodius, F.
,
Wrogemann, K.
,
Mandel, J.-L.
,
Koenig, M.
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 1.78 MB
Your tags:
english, 1994
21
A mouse Y chromosome gene encoded by a region essential for spermatogenesis and expression of male-specific minor histocompatibility antigens
Agulnik, Alexander I.
,
Mitchell, Michael J.
,
Lerner, Jody L.
,
Woods, Diane R.
,
Bishop, Colin E.
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 4.90 MB
Your tags:
english, 1994
22
Half the dystrophin gene is apparently enough for a mild clinical course: confirmation of its potential use for gene therapy
Passos-Bueno, M.R.
,
Vainzof, M.
,
Marie, S.K.
,
Zatz, M.
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 1.80 MB
Your tags:
english, 1994
23
Pyruvate dehydrogenase deficiency caused by a 33 base pair duplication in the PDH E1α subunit
Hansen, Lise Lotte
,
Horn, Nina
,
Dahl, Hans-Henrik M.
,
Kruse, Torben A.
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 1.62 MB
Your tags:
english, 1994
24
Identification of two new mutations (711 + 3A→G and V1397E) in CF chromosomes of Albanian and Macedonian origin
Petreska, Lidija
,
Kočeva, Svetlana
,
Gordova-Muratovska, Aleksandra
,
Nestorov, Risto
,
Efremov, Georgi D.
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 1.86 MB
Your tags:
english, 1994
25
Two complementation groups account for most cases of inherited MHC class II deficiency
Lisowska-Grospierre, Barbara
,
Fondaneche, Marie-Claude
,
Rols, Marie-Pierre
,
Griscelli, Claude
,
Fischer, Alain
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 3.65 MB
Your tags:
english, 1994
26
A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR
Schaedel, Charlotta
,
Kristoffersson, Ann-Charlotte
,
Kornfält, Ragnhild
,
Holmberg, Lars
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 1.77 MB
Your tags:
english, 1994
27
A somatic mutation in the adenomatous polyposis coli (APC) gene in peripheral blood cells — implications for predictive diagnosis
Mandl, Marion
,
Kadmon, Martina
,
Sengteller, Marlies
,
Caspari, Reiner
,
Propping, Peter
,
Friedl, Waltraut
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 3.22 MB
Your tags:
english, 1994
28
A novel X gene with a widely transcribed Y-linked homologue escapes X-inactivation in mouse and human
Agulnik, Alexander I.
,
Mitchell, Michael J.
,
Mattei, Marie-Geneviève
,
Borsani, Giuseppe
,
Avner, Philip A.
,
Lerner, Jody L.
,
Bishop, Colin E.
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 3.10 MB
Your tags:
english, 1994
29
Author index
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 79 KB
Your tags:
english, 1994
30
A de novo mutation of the RET proto-oncogene in a patient with MEN 2A
Mulligan, Lois M.
,
Eng, Charis
,
Healey, Catherine S.
,
Ponder, Margaret A.
,
Feldman, Gerald L.
,
Li, Peizhi
,
Jackson, Charles E.
,
Ponder, Bruce A.J.
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 2.28 MB
Your tags:
english, 1994
31
No mental retardation in a man with 40% abnormal methylation at the FMR-1 locus and transmission of sperm cell mutations as premutations
Rousseau, François
,
Robb, Laura J.
,
Rouillard, Patricia
,
Kaloustian, Vazken M. Der
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 2.08 MB
Your tags:
english, 1994
32
The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23–q24
Rampazzo, Alessandra
,
Nava, Andrea
,
Danieli, Gian A.
,
Buja, Gianfranco
,
Daliento, Luciano
,
Fasoli, Giuseppe
,
Scognamiglio, Roldano
,
Corrado, Domenico
,
Thlene, Gaetano
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 352 KB
Your tags:
english, 1994
33
Molecular genetic analysis of the 3p — syndrome
Phipps, Maude E.
,
Latif, Farida
,
Prowse, Amanda
,
Payne, Stewart J.
,
Dietz-Band, Jeanne
,
Leversha, Margaret
,
Affara, Nabeel A.
,
Moore, Anthony T.
,
Tolmie, John
,
Schinzel, Albert
,
Lerman, Michael I.
,
Fe
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 3.50 MB
Your tags:
english, 1994
34
Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient
Nouspikel, Thierry
,
Clarkson, Stuart G.
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 3.40 MB
Your tags:
english, 1994
35
Dinucleotide repeat polymorphism at the DXS977 locus
Yan, D.
,
Wong, D.
,
Zheng, K.
,
Thiselton, D.
,
Fujita, R.
,
Sieving, P.A.
,
Bhattacharya, S.S.
,
Yang-Feng, T.L.
,
Richards, J.E.
,
Swaroop, A.
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 98 KB
Your tags:
english, 1994
36
TXK , a novel human tyrosine kinase expressed in T cells shares sequence identity with Tec family kinases and maps to 4p12
Haire, Robert N.
,
Ohta, Yuko
,
Lewis, Janet E.
,
Fu, Shu Man
,
Kroisel, Peter
,
Litman, Gary W.
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 2.27 MB
Your tags:
english, 1994
37
Detection of aberrant DNA methylation in unique Prader — Willi syndrome patients and its diagnostic implications
Buiting, Karin
,
Dittrich, Bärbel
,
Robinson, Wendy P.
,
Guitart, Mirlam
,
Abeliovich, Dvorah
,
Lerer, Israela
,
Horsthemke, Bernhard
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 2.08 MB
Your tags:
english, 1994
38
Mutations in the connexin 32 gene in X-linked dominant Charcot—Marie—Tooth disease (CMTX1)
Fairweather, N.
,
Bell, C.
,
Cochrane, S.
,
Chelly, J.
,
Wang, S.
,
Mostacciuolo, M.L.
,
Monaco, A.P.
,
Haites, N.E.
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 44 KB
Your tags:
english, 1994
39
One base deletion in the cysteine-rich domain of the dystrophin gene in Duchenne muscular dystrophy patients
Tsukamoto, Hiroko
,
Inui, Koji
,
Matsuoka, Taro
,
Yanagihara, Itaru
,
Fukushima, Hisao
,
Okada, Shintaro
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 3.31 MB
Your tags:
english, 1994
40
Seven polymorphisms at the COL10A1 locus
Rash, B.
,
Sweetman, W.
,
Sykes, B.
,
Thomas, T.
,
Grant, M.
,
Boot-Handford, R.
,
Wallis, G.
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 62 KB
Your tags:
english, 1994
41
Human immunoglobulin V H and D segments on chromosomes 15q11.2 and 16p11.2
Ian, M.Tomlinson
,
Cook, Graham P.
,
Nigel, P.Carter
,
Elaswarapu, Ramnath
,
Smith, Sarah
,
Walter, Gerald
,
Buluwela, Lakjaya
,
Rabbitts, Terence H.
,
Winter, Greg
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 3.32 MB
Your tags:
english, 1994
42
Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred
Piersall, Linda D.
,
Dietz, Harry C.
,
Hall, Bryan D.
,
Cadle, Ronald G.
,
Pyeritz, Reed E.
,
Francomano, Clair A.
,
McIntosh, Iain
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 2.06 MB
Your tags:
english, 1994
43
Identification of six novel mutations in the CFTR gene of patients from Bulgaria by screening the twenty seven exons and exon/intron boundaries using DGGE and direct sequencing
Savov, A.
,
Mercier, B.
,
Kalaydjieva, L.
,
Férec, C.
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 44 KB
Your tags:
english, 1994
44
Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas
Sainz, Jesús
,
Huynh, Duong P.
,
Figueroa, Karla
,
Ragge, Nikola K.
,
Baser, Michael E.
,
Pulst, Stefan-Matthias
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 4.97 MB
Your tags:
english, 1994
45
SSCP at the BTK locus
Vořechovský, I.
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 97 KB
Your tags:
english, 1994
46
A new missense mutation, Arg719Gln, in the β-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy
Consevage, Michael W.
,
Salada, Grant C.
,
Baylen, Barry G.
,
Ladda, Roger L.
,
Rogan, Peter K.
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 3.98 MB
Your tags:
english, 1994
47
Polymorphisms in the keratin 8 gene detected by PCR
McLean, W.H.I.
,
Sultan, N.
,
Parfitt, E.
,
Lane, E.B.
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 97 KB
Your tags:
english, 1994
48
DXS997 localized to intron 48 of dystrophin
Saad, F.A.
,
Busque, C.
,
Vitiello, L.
,
Danieli, G.A.
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 42 KB
Your tags:
english, 1994
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