Volume 95; Issue 4

Main
Human Genetics
Volume 95; Issue 4

Human Genetics

Volume 95; Issue 4

1

An apolipoprotein CIII marker associated with hypertriglyceridemia in Caucasians also confers increased risk in a west Japanese population

Qing Zeng, Marilyn Dammerman, Yoichi Takada, Akira Matsunaga, Jan L. Breslow, Jun Sasaki

Journal:

Year:

1995

Language:

english

File:

PDF, 542 KB

english, 1995

2

Mucopolysaccharidosis IVA: structural gene alterations identified by Southern blot analysis and identification of racial differences

Shunji Tomatsu, Seiji Fukuda, Alan Cooper, James E. Wraith, Atsushi Uchiyama, Toshinori Hori, Yoshinori Nakashima, Naoto Yamada, Kazuko Sukegawa, Naomi Kondo, Yasuyuki Suzuki, Nobuyuki Shimozawa, Tada

Journal:

Year:

1995

Language:

english

File:

PDF, 1002 KB

english, 1995

3

Exclusion of the cone-specific α-subunit of the transducin gene in Stargardt's disease

Sylvie Gerber, Jean-Michel Rozet, Dominique Bonneau, Eric Souied, Jean Weissenbach, Jean Frezal, Arnold Munnich, Josseline Kaplan

Journal:

Year:

1995

Language:

english

File:

PDF, 309 KB

english, 1995

4

Heterogeneity of the apolipoproteinH*3 allele and its role in affecting the binding of apolipoprotein H (β2-glycoprotein I) to anionic phospholipids

M. Ilyas Kamboh, Dawn R. Wagenknecht, John A. McIntyre

Journal:

Year:

1995

Language:

english

File:

PDF, 818 KB

english, 1995

5

Polymorphisms in the human DNA polymerase β gene

Yasushi Dobashi, Yoshinobu Kubota, Taro Shuin, Soichiro Torigoe, Masahiro Yao, Masahiko Hosaka

Journal:

Year:

1995

Language:

english

File:

PDF, 158 KB

english, 1995

6

Human ferrochelatase: a novel mutation in patients with erythropoietic protoporphyria and an isoform caused by alternative splicing

Xiaoye Schneider-Yin, Beat W. Schäfer, Otmar Tönz, Elisabeth I. Minder

Journal:

Year:

1995

Language:

english

File:

PDF, 1.19 MB

english, 1995

7

Analysis of the complete coding region of the CFTR gene in a cohort of CF patients from North-Eastern Italy: identification of 90% of the mutations

Alberto Bonizzato, Elena Nicolis, Carlo Castellani, Graziella Borgo, Gianni Mastella, Giulio Cabrini, Luigi Bisceglia, Leopoldo Zelante, Paolo Gasparini, Cristina Marigo, Cristina Bombieri, Pier Franc

Journal:

Year:

1995

Language:

english

File:

PDF, 934 KB

english, 1995

8

Detection of a germline mutation at codon 918 of the RET proto-oncogene in French MEN 2B families

Mireille Rossel, Colette Bonnardel, Gilbert Lenoir, Marc Billaud, Isabelle Schuffenecker, Martin Schlumberger, Paule Gardet, Elisabeth Modigliani, Jean Navarro, Yin Luo, Giovanni Romeo

Journal:

Year:

1995

Language:

english

File:

PDF, 337 KB

english, 1995

9

Molecular basis and PCR-DNA typing of the Fya/fyb blood group polymorphism

Christophe Tournamille, Caroline Kim, Pierre Gane, Jean-Pierre Cartron, Yves Colin

Journal:

Year:

1995

Language:

english

File:

PDF, 438 KB

english, 1995

10

Benign familial neonatal convulsions: confirmation of genetic heterogeneity and further evidence for a second locus on chromosome 8q

Ortrud Steinlein, Volker Schuster, Christine Fischer, Martin Häussier

Journal:

Year:

1995

Language:

english

File:

PDF, 412 KB

english, 1995

11

Genetic heterogeneity in adult dominant polycystic kidney disease in Cypriot families

C. D. Constantinou-Deltas, Elena Papageorgiou, Kalina Boteva, Kyproula Christodoulou, Martijn H. Breuning, D. J. M. Peters, Alkis Pierides

Journal:

Year:

1995

Language:

english

File:

PDF, 568 KB

english, 1995

12

A new mutation of the ALAS2 gene in a large family with X-linked sideroblastic anemia

Emmanuel Prades, Cécile Chambon, Tamara A. Dailey, Harry A. Dailey, Jean Brière, Bernard Grandchamp

Journal:

Year:

1995

Language:

english

File:

PDF, 568 KB

english, 1995

13

New polymorphisms and markers in the HLA class I region: relevance to hereditary hemochromatosis (HFE)

Angela Totaro, Anna Grifa, Antonella Roetto, Claudio Lunardi, Leonardo D'Agruma, Luca Sbaiz, Leopoldo Zelante, Giorgio Sandre, Clara Camaschella, Paolo Gasparini

Journal:

Year:

1995

Language:

english

File:

PDF, 534 KB

english, 1995

14

Molecular basis of inter-alpha-trypsin inhibitor heavy chain H1 (ITIH1) polymorphism

M. Ding, K. Umetsu, I. Yuasa, M. Sato, A. Harada, T. Suzuki

Journal:

Year:

1995

Language:

english

File:

PDF, 1.16 MB

english, 1995

15

Non-radioactive multiplex-SSCP analysis: detection of a new type II procollagen gene (COL2A1) mutation

Andreas Winterpacht, Katja Hilbert, Ulrike Schwarze, Bernhard Zabel

Journal:

Year:

1995

Language:

english

File:

PDF, 570 KB

english, 1995

16

Molecular characterisation of the glucose-6-phosphate dehydrogenase (G6PD) Ferrara II variant

Maria Domenica Cappellini, Franco Martinez Montemuros, Chiara Dotti, Dario Tavazzi, Gemino Fiorelli

Journal:

Year:

1995

Language:

english

File:

PDF, 411 KB

english, 1995

17

A 163-bp deletion at the C-terminus of the schwannomin gene associated with variable phenotypes of neurofibromatosis type 2

Lan Kluwe, Stefan M. Pulst, Johannes Köppen, Victor -F. Mautner

Journal:

Year:

1995

Language:

english

File:

PDF, 379 KB

english, 1995

18

A novel missense mutation (Thr176→IIe) at the putative hinge of the neo N-terminus of activated protein C

Paula J. Hallam, Adam I. Wacey, Pier M. Mannucci, Cristina Legnani, Wolfgang Kühnau, Michael Krawczak, Vijay V. Kakkar, David N. Cooper

Journal:

Year:

1995

Language:

english

File:

PDF, 745 KB

english, 1995

19

A high-density microsatellite map of the ataxia-telangiectasia locus

Lina Vanagaite, Michael R. James, Galit Rotman, Kinneret Savitsky, Anat Bar-Shira, Shlomit Gilad, Yael Ziv, Vitalia Uchenik, Adam Sartiel, Francis S. Collins, Val C. Sheffield, Charles W. Richard, Jea

Journal:

Year:

1995

Language:

english

File:

PDF, 283 KB

english, 1995

20

Exclusion of the 13-kDa rapamycin binding protein gene (FKBP2) as a candidate gene for multiple endocrine neoplasia type 1

Sean Grimmond, Gunther Weber, Catharina Larsson, Marilyn Walters, Bin Teh, Joseph Shepherd, Magnus Nordenskjold, Nick Hayward

Journal:

Year:

1995

Language:

english

File:

PDF, 569 KB

english, 1995

21

Identification of aPstI polymorphism in the p21Cip1/Waf1cyclin-dependent kinase inhibitor gene

John C. Law, Anee Deka

Journal:

Year:

1995

Language:

english

File:

PDF, 216 KB

english, 1995

22

Mval polymorphism in the proteolipid protein (PLP) gene

Hitoshi Osaka, Ken Inoue, Chiaki Kawanishi, Yoshiteru Yamada, Hideki Onishi, Naoya Sugiyama, Kyoko Suzuki, Atsuo Nezu, Seiji Kimura, Kenji Kosaka

Journal:

Year:

1995

Language:

english

File:

PDF, 58 KB

english, 1995

23

Fluorescent multiplex microsatellites used to identify haplotype associations with 15 CFTR mutations in 124 Northern Irish CF families

David Hughes, Alison Hill, Aileen Redmond, Norman Nevin, Colin Graham

Journal:

Year:

1995

Language:

english

File:

PDF, 177 KB

english, 1995

24

A new polymorphism in exon 7 of the cystic fibrosis transmembrane regulator (CFTR) gene

Lidija Petreska, Svetlana Kočeva, Aleksandra Gordova-Muratovska, Georgi Dimitar Efremov

Journal:

Year:

1995

Language:

english

File:

PDF, 155 KB

english, 1995

25

Dinucleotide polymorphism at the DXS1178 locus is tightly linked to PGK1 at Xq13

Ricardo Fujita, Craig Skolnick, Andrew J. Pakstis, Teresa L. Yang-Feng, Anand Swaroop

Journal:

Year:

1995

Language:

english

File:

PDF, 107 KB

english, 1995

26

Dinucleotide repeat polymorphism within the PHKA1 gene at Xq12-q13

Martin Gossen, Andrea Wüllrich, Manfred W. Kilimann

Journal:

Year:

1995

Language:

english

File:

PDF, 132 KB

english, 1995

27

Polymorphism of the pentanucleotide repeat d(AAAAT) within intron 1 of the human tumor suppressor gene p53 (17p13.1)

Meinhard Hahn, Rainer Fislage, Alfred Pingoud

Journal:

Year:

1995

Language:

english

File:

PDF, 87 KB

english, 1995

28

C to T and/or G to A transitions are responsible for loss of aMspI restriction site at the 5′-end of the human apolipoprotein AI gene

X. L. Wang, R. Badenhop, K. E. Humphrey, D. E. L. Wilcken

Journal:

Year:

1995

Language:

english

File:

PDF, 117 KB

english, 1995

29

Two polymorphic dinucleotide repeats in intron 44 of the dystrophin gene

Silvia Köchling, Johan T. Dunnen, Bernd Dworniczak, Jürgen Horst

Journal:

Year:

1995

Language:

english

File:

PDF, 153 KB

english, 1995

30

Announcements

Journal:

Year:

1995

Language:

english

File:

PDF, 129 KB

english, 1995