Volume 93; Issue 6

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Human Genetics
Volume 93; Issue 6

Human Genetics

Volume 93; Issue 6

1

Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase

Helge Rootwelt, Janice Chou, William A. Gahl, Ruud Berger, Turgay Coşkun, Else Brodtkorb, Eli Anne Kvittingen

Journal:

Year:

1994

Language:

english

File:

PDF, 725 KB

english, 1994

2

Multiplex PCR screening detects small p53 deletions and insertions in human ovarian cancer cell lines

Ingo B. Runnebaum, Xiao-Wen Tong, Volker Moebus, Volker Heilmann, Dirk G. Kieback, Rolf Kreienberg

Journal:

Year:

1994

Language:

english

File:

PDF, 793 KB

english, 1994

3

A novel complex mutation in the LDL receptor gene probably caused by the simultaneous occurrence of deletion and insertion in the same region

Kimiko Yamakawa-Kobayashi, Tsutomu Kobayashi, Hisako Yanagi, Yae Shimakura, Juichi Satoh, Hideo Hamaguchi

Journal:

Year:

1994

Language:

english

File:

PDF, 555 KB

english, 1994

4

Unbiased transmission of mutant alleles at the human retinoblastoma locus

Stephanie B. Seminara, Thaddeus P. Dryja

Journal:

Year:

1994

Language:

english

File:

PDF, 429 KB

english, 1994

5

Tight linkage of pyruvate kinase(PKLR)and glucocerebrosidase(GBA)genes

Dana Glenn, Terri Gelbart, Ernest Beutler

Journal:

Year:

1994

Language:

english

File:

PDF, 369 KB

english, 1994

6

Linkage analysis of the genetic determinants of high density lipoprotein concentrations and composition: evidence for involvement of the apolipoprotein A-II and cholesteryl ester transfer protein loci

Xiangdong Bu, Craig H. Warden, Yu-Rong Xia, Cynthia Meester, Donald L. Puppione, Scott Teruya, Beth Lokensgard, Siamac Daneshmand, Jane Brown, Richard J. Gray, Jerome I. Rotter, Aldons J. Lusis

Journal:

Year:

1994

Language:

english

File:

PDF, 1012 KB

english, 1994

7

Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma

Hans-Christian Hennies, Dirk Zehender, Jürgen Kunze, Wolfgang Küster, André Reis

Journal:

Year:

1994

Language:

english

File:

PDF, 1.04 MB

english, 1994

8

Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia

Kenji Nanao, Kazuko Okamura-Ikeda, Yutaro Motokawa, David M. Danks, E. Regula Baumgartner, Goro Takada, Kiyoshi Hayasaka

Journal:

Year:

1994

Language:

english

File:

PDF, 762 KB

english, 1994

9

Identification of three novel mutations (457 TAT→G, D192G, Q685X) in the Slovenian CF patients

Marie-Pierre Audrézet, Nina Canki-Klain, Bernard Mercier, Danijela Bracar, C. Verlingue, Claude Férec

Journal:

Year:

1994

Language:

english

File:

PDF, 473 KB

english, 1994

10

Delineation of marker chromosomes by reverse chromosome painting using only a small number of DOP-PCR amplified microdissected chromosomes

Renate Viersbach, Gesa Schwanitz, Markus M. Nöthen

Journal:

Year:

1994

Language:

english

File:

PDF, 2.46 MB

english, 1994

11

PME of Unverricht-Lundborg type in the Mediterranean region: linkage and linkage disequilibrium confirm the assignment to the EPM1 locus

Anna-Elina Lehesjoki, Carlo Alberto Tassinari, Giuliano Avanzini, Roberto Michelucci, Silvana Franceschetti, Antonella Antonelli, Guido Rubboli, Albert Chapelle

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Year:

1994

Language:

english

File:

PDF, 645 KB

english, 1994

12

Affected sib-pair analysis of the GLUT1 glucose transporter gene locus in non-insulin-dependent diabetes mellitus (NIDDM): evidence for no linkage

Marco G. Baroni, Juan C. Alcolado, Claudia Gragnoli, Anna M. Franciosi, M. Gisella Cavallo, Vincenzo Fiore, Paolo Pozzilli, David J. Galton

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Year:

1994

Language:

english

File:

PDF, 622 KB

english, 1994

13

A base substitution at IVS-19 3′-end splice junction causes exon 20 skipping in proα2(I) collagen mRNA and produces mild osteogenesis imperfecta

M. Mottes, A. Sangalli, M. Valli, A. Forlino, M. Gomez-Lira, F. Antoniazzi, C. D. Constantinou-Deltas, G. Cetta, P. F. Pignatti

Journal:

Year:

1994

Language:

english

File:

PDF, 1.31 MB

english, 1994

14

Genetic mapping of 14 short tandem repeat polymorphisms on human chromosome 22

Homero P. Vallada, John E. Collins, Ian Dunham, Elisabeth Dawson, Robin M. Murray, Michael Gill, David A. Collier

Journal:

Year:

1994

Language:

english

File:

PDF, 286 KB

english, 1994

15

A unique origin for Sicilian (δβ)∘-thalassemia in 33 unrelated families and its rapid diagnostic characterization by PCR analysis

Gabriella Esposito, Michela Grosso, Enrico Gottardi, Paola Izzo, Clara Camaschella, Francesco Salvatore

Journal:

Year:

1994

Language:

english

File:

PDF, 398 KB

english, 1994

16

Polymorphisms in the 3′ untranslated region of the IκB/MAD-3 (NFKBI) gene located on chromosome 14

Damjan Glavač, Metka Ravnik-Glavač, Stephen J. O'Brien, Michael Dean

Journal:

Year:

1994

Language:

english

File:

PDF, 264 KB

english, 1994

17

Autosomal recessive polycystic kidney disease does not map to the second gene locus for autosomal dominant polycystic kidney disease on chromosome 4

Klaus Zerres, Gabi Mücher, Sabine Rudnik-Schöneborn

Journal:

Year:

1994

Language:

english

File:

PDF, 166 KB

english, 1994

18

Anticipation in hereditary dentatorubral-pallidoluysian atrophy

Akira Sano, Noriko Yamauchi, Yasuo Kakimoto, Osamu Komure, Jun Kawai, Fumitada Hazama, Kazuyo Kuzume, Nozomi Sano, Ikuko Kondo

Journal:

Year:

1994

Language:

english

File:

PDF, 358 KB

english, 1994

19

Assignment of the human 8.5 H gene to chromosome 5, region 5q35

S. Diriong, D. Sabéran-Djoneidi, M. Lévi-Strauss, A. Bernheim, V. C. Nguyen

Journal:

Year:

1994

Language:

english

File:

PDF, 442 KB

english, 1994

20

Molecular and genetic characterisation of German families with paramyotonia congenita and demonstration of founder effect in the Ravensberg families

Christof Meyer-Kleine, Michael Otto, Barbara Zoll, Manuela C. Koch

Journal:

Year:

1994

Language:

english

File:

PDF, 459 KB

english, 1994

21

Molecular defects in erythropoietic protoporphyria with terminal liver failure

Xiaoye Schneider-Yin, Beat W. Schäfer, Peter Möhr, Günter Burg, Elisabeth I. Minder

Journal:

Year:

1994

Language:

english

File:

PDF, 573 KB

english, 1994

22

Assignment of the gene encoding the human gonadotropin-releasing hormone receptor to 4q13.2–13.3 by fluorescence in situ hybridization

N. Morrison, R. E. Sellar, E. Boyd, K. A. Eidne, J. M. Connor

Journal:

Year:

1994

Language:

english

File:

PDF, 140 KB

english, 1994

23

Assignment of the gene encoding the human thyrotropin-releasing hormone receptor to 8q23 by fluorescence in situ hybridization

N. Morrison, S. M. Duthie, E. Boyd, K. A. Eidne, J. M. Connor

Journal:

Year:

1994

Language:

english

File:

PDF, 561 KB

english, 1994

24

(G)n-Mononucleotide polymorphism in the human D4 dopamine receptor (DRD4) gene

A. Petronis, K. O'Hara, C. L. Barr, J. L. Kennedy, H. H. M. Tol

Journal:

Year:

1994

Language:

english

File:

PDF, 91 KB

english, 1994

25

TaqI dimorphic site in a human pancreatic phospholipase A2 (PLA2) gene localized on chromosome 12

P. M. Frossard, P. E. Newman, G. G. Lestringant

Journal:

Year:

1994

Language:

english

File:

PDF, 62 KB

english, 1994

26

Investigation of the polymorphicAvaII site by a PCR-based assay at the human CD18 gene locus

Shinya Mastuura, Fumio Kishi

Journal:

Year:

1994

Language:

english

File:

PDF, 135 KB

english, 1994

27

ANlaIII polymorphism within the human factor VII gene

Shu Huey Chaing, Anders Wallmark, Erik Berntorp, Katherine A. High

Journal:

Year:

1994

Language:

english

File:

PDF, 210 KB

english, 1994

28

BglII identifies a frequent biallelic DNA polymorphism of the human RT6 gene

Friedrich Koch-Nolte, Surjit Singh, Friedrich Haag, Maren Kühl, Heinz-Günter Thiele

Journal:

Year:

1994

Language:

english

File:

PDF, 157 KB

english, 1994

29

No maternal age relationship for polyploidy

Dorothy Warburton, Jennie Kline, Ann Kinney

Journal:

Year:

1994

Language:

english

File:

PDF, 136 KB

english, 1994

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