Volume 3; Issue 5

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Human Molecular Genetics
Volume 3; Issue 5

Human Molecular Genetics

Volume 3; Issue 5

1

Structural analysis of α-satellite DNA and centromere proteins using extended chromatin and chromosomes

Haaf, Thomas, Ward, David C.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 8.41 MB

english, 1994

2

A gene for hereditary multiple exostoses maps to chromosome 19p

Le Merrer, Marline, Legeai-Mallet, Laurence, Jeannin, Patricia Margaritte, Horsthemke, Bernhard, Schlnzel, Albert, Plauchu, Henri, Toutaln, Annick, Achard, Frédéric, Munnich, Arnold, Maroteaux, Pierre

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 403 KB

english, 1994

3

Identification of five novel mutations in the porphobilinogen deaminase gene

S.Mgone, Charles, Lanyon, W.George, R.Moore, Michael, Louie, Gordon V., Connor, James M.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.82 MB

english, 1994

4

An integrated YAC-overlap and ‘cosmid-pocket’ map of the human chromosome 21

Nižetić, Dean, Gellen, Lisa, Hamvas, Renata M. J., Mott, Richard, Grigorlev, Andrei, Vatcheva, Radost, Zehetner, Günther, Yaspo, Marie-Laure, Dutriaux, Annie, Lopes, Carmela, Delabar, Jean-M., Van Bro

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 7.92 MB

english, 1994

5

Genomic organization of the X-linked gene (PIG-A) that is mutated in paroxysmal nocturnal haemoglobinuria and of a related autosomal pseudogene mapped to 12q21

Bessler, M., Hillmen, P., Longo, L., Luzzatto, L., Mason, P.J.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 3.79 MB

english, 1994

6

Localization of the achondroplasia gene to the distal 2. 5 Mb of human chromosome 4p

Francomano, Clalr A., de Luna, Rosa I. Ortiz, Hefferon, Timothy W., Bellus, Gary A., Turner, Caria E., Taylor, Eugene, Meyers, Deborah A., Blanton, Susan Halloran, Murray, Jeffrey C., Mclntosh, lain,

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 449 KB

english, 1994

7

Germline mutations in the neurofibromatosis type 2 tumour suppressor gene

Bourn, David, Carter, Simon A., Mason, Susan, Evans, D.Gareth R., Strachan, Tom

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.92 MB

english, 1994

8

SSCP/SacI polymorphism in the PAX5 gene

Vorechovsky, I., Kurzbauer, R., Kozmfk, Z., LHammarstrfim,, Smith, C.I.E., Busslinger, M.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 105 KB

english, 1994

9

Detection of a premutation in Japanese myotonic dystrophy

Yamagata, Hidehisa, Miki, Tetsuro, Sakoda, Shun-lchi, Yamanaka, Naoki, Davies, June, Shelbourne, Peggy, Kubota, Ryuji, Takenaga, Satoshl, Nakagawa, Masanori, Ogihara, Toshlo, Johnson, Keith

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.83 MB

english, 1994

10

Extreme evolutionary conservation of QM, a novel c-Jun associated transcription factor

Farmer, Andrew A., Loftus, Thomas M., Mills, Alea A., Sato, Kevin Y., Neill, John D., Tron, Thierry, Yang, Meijia, Trumpower, Bernard L., Stanbridge, Eric J.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 586 KB

english, 1994

11

Dinucleotide repeat polymorphism (D3S1776) on human chromosome 3p

Todd, S., Naylor, S.L., Drabkin, H.A., Gemmil, .M.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 89 KB

english, 1994

12

CORRIGENDUM

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 29 KB

english, 1994

13

BLOCK-based PCR markers to find gene family members in human and comparative genome analysis

D'Esposito, Maurizlo, Pilia, Giuseppe, Schlessinger, David

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 3.54 MB

english, 1994

14

Molecular genetics of human polymorphic N-acetyltransferase: enzymatic analysis of 15 recombinant wild-type, mutant, and chimeric NAT2 allozymes

Heln, David W., Ferguson, Ronald J., Doll, Mark A., Rustan, Timothy D., Gray, Kevin

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.94 MB

english, 1994

15

The glucose-6-phosphate dehydrogenase (G6PD) deficient variant G6PD union (454 Arg→Cys) has a worldwide distribution possibly due to recurrent mutation

Rovlra, Ana, Vulliamy, Thomas J., Pujades, Assumpció, Luzzatto, Lucio, Corrons, Joan-Luis Vives

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.83 MB

english, 1994

16

A new missense mutation in glucocerebrosidase exon 9 of a non Jewish Caucasian type 1 Gaucher disease patient

Choy, Francis Y.M., Wei, Chao, Applegarth, Derek A., Yong, Siu-Li

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 2.24 MB

english, 1994

17

Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene

Ravnlk-Glavač, Metka, Glavač, Damjan, Dean, Michael

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 3.94 MB

english, 1994

18

A novel deletion mutation of lactate dehydrogenase A(M) gene in the fifth family with the enzyme deficiency

Maekawa, Masato, Sudo, Kayoko, Kanno, Takashi, Takayasu, Susumu, -L.Li, Steven S., Kltajima, Masato, Matsuura, Yukio

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.78 MB

english, 1994

19

Dinucleotide repeat polymorphisms near the KCNA6 and KCNAI loci

Borwne, D.L., Litt, M.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 101 KB

english, 1994

20

Characterization of a novel gene in the human major histocompatibility complex that encodes a potential new member of the I kappa B family of proteins

Albertella, Mark R., Duncan Campbe, R.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 3.89 MB

english, 1994

21

Dinucleotide repeat polymorphism at the D3S666 locus

Klauck, S.M., Yamakawa, K., Seizinger, B.R.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 90 KB

english, 1994

22

Asymptomatic homozygous hypobetalipoproteinemia associated with apolipoprotein B45.2

G.Young, Stephen, Bihaln, Bernard, Flynn, Laura M., Sanan, David A., Ayrault-Jarrier, Marise, Jacotot, Bernard

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.76 MB

english, 1994

23

A 2.8 Mb YAC contig in 11q12 – q13 localizes candidate genes for atopy: FcɛRIβ and CD20

Stafford, A.N., Rider, S.H., Hopkin, J.M., Cookson, W.O., Monaco, A.P.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.97 MB

english, 1994

24

Dinucleotide repeat polymorphism at the NCAM locus

Telatar, M., Concannon, P., Tolun, A.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 101 KB

english, 1994

25

Missense mutation in the adenine phosphoribosyltransferase gene causing 2, 8-dihydroxyadenine urolithiasis

Sahota, Amrik, Chen, Ju, Boyadjiev, Simeon A., Gault, M.Henry, Tischfield, Jay A.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.87 MB

english, 1994

26

Molecular cloning of the synovial sarcoma-specific translocation (X;18)(p11.2;q11.2) breakpoint

de Leeuw, B., Balemans, M., Weghuis, D.Olde, Seruca, R., Janz, M., Geraghty, M.T., Gilgenkrantz, S., Ropers, H.H., van Kessel, A.Geurts

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 3.37 MB

english, 1994

27

SSCP detection of a nonsense mutation in exon 5 of the amelogenin gene (AMGX) causing X-linked amelogenesis imperfecta (AIH1)

Lench, N.J., Brook, A.H., Winter, G.B.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.59 MB

english, 1994

28

A novel nuclear protein binds centromeric alpha satellite DNA

Gaff, C., du Sart, D., KalltsIs, P., lannello, R., Nagy, A., Choo, K.H.A.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 4.76 MB

english, 1994

29

(CA) repeat polymorphism in the chromosome 18 encoded dystrophin-like protein

Khurana, T.S., Engle, E.C., Bennett, R.R., Silverman, G.A., Seling, S., Bruns, G.A.P., Kunkel, L.M.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 89 KB

english, 1994

30

Fourteen new polymorphic dinucleotide repeats on human chromosome 3: D3S1432, D3S1433, D3S1434, D3S1483, D3S1484, D3S1485, D3S1486, D3S1487, D3S1488, D3S1489, D3S1490, D3S1496, D3S1497 and D3S1498

Li, H., LSchmidt,, Wei, M.-H., Hustad, T., Lerman, M.I., Zbar, B., Tory, K.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 83 KB

english, 1994

31

Ten base pair duplication in exon 38 of the NF1 gene

Legius, Eric, Hall, Bryan K., Wallace, Margareth R., Collins, Francis S., Glover, Thomas W.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.82 MB

english, 1994

32

Dinucleotide repeat polymorphism at the D3S1255 locus

Klauck, S.M., Whisenant, E., Wood, M., Drabkin, H.A., Seizinger, B.R.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 90 KB

english, 1994

33

New human DNA polymorphisms submitted to the genome data base

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 381 KB

english, 1994

34

Tetranucleotide repeat polymorphism at the D8S640 locus

Lu, J., Riley, R., Fillmore, K., Ward, K.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 105 KB

english, 1994

35

Author index

Journal:

Human Molecular Genetics

Year:

1994

File:

PDF, 51 KB

1994