Volume 91; Issue 4

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Human Genetics
Volume 91; Issue 4

Human Genetics

Volume 91; Issue 4

1

Molecular defect in human erythropoietic protoporphyria with fatal liver failure

Yoshitsugu Nakahashi, Hiroaki Miyazaki, Yoichi Kadota, Yuji Naitoh, Kyoichi Inoue, Masayuki Yamamoto, Norio Hayashi, Shigeru Taketani

Journal:

Year:

1993

Language:

english

File:

PDF, 577 KB

english, 1993

2

Presymptomatic direct detection of adenomatous polyposis coli (APC) gene mutations in familial adenomatous polyposis

Gloria M. Petersen, Clair Francomano, Ken Kinzler, Yusuke Nakamura

Journal:

Year:

1993

Language:

english

File:

PDF, 534 KB

english, 1993

3

Support for founder effect for two lipoprotein lipase (LPL) gene mutations in French Canadians by analysis of GT microsatellites flanking the LPL gene

Stephen Wood, Michael Schertzer, Michael Hayden, Yuanhong Ma

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Year:

1993

Language:

english

File:

PDF, 512 KB

english, 1993

4

Immunophenotyping of mitotic cells from long-term cultures of chorionic villi

Nadja Zimmer, Elisabeth Göttert, Joachim Kraus, Klaus D. Zang, Wolfram Henn

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Year:

1993

Language:

english

File:

PDF, 3.32 MB

english, 1993

5

Single-strand conformational polymorphism and direct sequencing applied to carrier testing in families with ornithine transcarbamylase deficiency

Michael Y. Tsai, Robert A. Holzknecht, Mendel Tuchman

Journal:

Year:

1993

Language:

english

File:

PDF, 652 KB

english, 1993

6

HLA-A/B haplotye frequencies among U.S. Hispanic and African-American populations

Lloyd C. Osborne, James M. Mason

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Year:

1993

Language:

english

File:

PDF, 560 KB

english, 1993

7

Functional disomy of Xp22-pter in three males carrying a portion of Xp translocated to Yq

Barbara Bardoni, Giovanna Floridia, Silvana Guioli, Giuliana Peverali, Cecilia Anichini, Mariangela Cisternino, Rosario Casalone, Cesare Danesino, Marco Fraccaro, Orsetta Zuffardi, Giovanna Camerino

Journal:

Year:

1993

Language:

english

File:

PDF, 941 KB

english, 1993

8

The two locus control of Leber hereditary optic neurophathy and a high penetrance in Japanese pedigrees

Makoto Nakamura, Yoshisada Fujiwara, Misao Yamamoto

Journal:

Year:

1993

Language:

english

File:

PDF, 308 KB

english, 1993

9

Patterns of deletions of the dystrophin gene in different European populations

Gian Antonio Danieli, Federico Mioni, Clemens R. Müller, Libero Vitiello, Maria Luisa Mostacciuolo, Tiemo Grimm

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Year:

1993

Language:

english

File:

PDF, 432 KB

english, 1993

10

FFU complex: an analysis of 491 cases

Widukind Lenz, Marta Zygulska, Jürgen Horst

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Year:

1993

Language:

english

File:

PDF, 3.95 MB

english, 1993

11

Analysis of a second family with hereditary non-chromaffin paragangliomas locates the underlying gene at the proximal region of chromosome 11q

E. C. M. Mariman, S. E. C. Beersum, C. W. R. J. Cremers, F. M. Baars, H. H. Ropers

Journal:

Year:

1993

Language:

english

File:

PDF, 439 KB

english, 1993

12

Molecular heterogeneity of autosomal dominant cerebellar ataxia: analysis of flanking microsatellites of the spinocerebellar ataxia 1 locus in a northern European family unequivocally demonstrates non-linkage

Astrid Lunkes, Suzana Gispert, Jürgen Enczmann, Georg Auburger

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Year:

1993

Language:

english

File:

PDF, 381 KB

english, 1993

13

Autosomal recessive transmission of hemophilia A due to a von Willebrand factor mutation

Robert J. Wise, Bruce M. Ewenstein, Jed Gorlin, Seth C. Narins, Michael Jesson, Robert I. Handin

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Year:

1993

Language:

english

File:

PDF, 786 KB

english, 1993

14

Excess of multifocal tumors in nephroblastoma: implications for mechanisms of tumor development and genetic counseling

Catherine Bonaïti-Pellié, Agnès Chompret, Marie-France Tournade, Jean Lemerle, Paul A. Voute, Jan F. M. Delemarre

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Year:

1993

Language:

english

File:

PDF, 362 KB

english, 1993

15

A parental combination analysis for ABO-HP interaction in a Bengali population

Arup Ratan Bandyopadhyay

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Year:

1993

Language:

english

File:

PDF, 215 KB

english, 1993

16

Elevated frequency of an ETS-1 restriction fragment polymorphism in chronic B-cell leukaemia

Peter E. Crossen, Mary J. Morrison

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Year:

1993

Language:

english

File:

PDF, 364 KB

english, 1993

17

Human zinc finger gene ZNF23 (Kox16) maps to a zinc finger gene cluster on chromosome 16q22, and ZNF32 (Kox30) to chromosome region 10q23-–q24

L. A. Cannizzaro, M. M. Aronson, H. J. Thiesen

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Year:

1993

Language:

english

File:

PDF, 320 KB

english, 1993

18

Focal epithelial hyperplasia: human-papillomavirus-induced disease with a genetic predisposition in a Venezuelan family

Gloria Premoli-De-Percoco, Juan Pinto Cisternas, Jose Luis Ramírez, Iván Galindo

Journal:

Year:

1993

Language:

english

File:

PDF, 292 KB

english, 1993

19

Molecular cytogenetic characterization of three familial cases of satellited Y chromosomes

Tracy Wilkinson, John Anthony Crolla

Journal:

Year:

1993

Language:

english

File:

PDF, 551 KB

english, 1993

20

Charcot-Marie-Tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2→12

M. Upadhyaya, S. H. Roberts, J. Farnham, J. C. MacMillan, A. Clarke, J. P. Heath, I. C. G. Hodges, P. S. Harper

Journal:

Year:

1993

Language:

english

File:

PDF, 340 KB

english, 1993

21

Duplication of the short arm of the X chromosome in mother and daugther

Cathy M. Tuck-Muller, Jose E. Martinez, Denise A. S. Batista, William G. Kearns, Wladimir Wertelecki

Journal:

Year:

1993

Language:

english

File:

PDF, 958 KB

english, 1993

22

Human β2-glycoprotein I: molecular analysis of DNA and amino acid polymorphism

Alexander Steinkasserer, Christa Dörner, Reinhard Würzner, Robert B. Sim

Journal:

Year:

1993

Language:

english

File:

PDF, 415 KB

english, 1993

23

Polymorphism in human IL-1 receptor antagonist gene intron 2 is caused by variable numbers of an 86-bp tandem repeat

Joanna K. Tarlow, Alexandra I. F. Blakemore, Andrew Lennard, Roberto Solari, Howard N. Hughes, Alexander Steinkasserer, Gordon W. Duff

Journal:

Year:

1993

Language:

english

File:

PDF, 263 KB

english, 1993

24

A 40-nucleotide repeat polymorphism in the human dopamine transporter gene

Akira Sano, Keiji Kondoh, Yasuo Kakimoto, Ikuko Kondo

Journal:

Year:

1993

Language:

english

File:

PDF, 135 KB

english, 1993

25

A β-galactosidase gene mutation identified in both Morquio B disease and infantile GM1gangliosidosis

Y. Suzuki, A. Oshima

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Year:

1993

Language:

english

File:

PDF, 70 KB

english, 1993

26

Announcements

Journal:

Year:

1993

Language:

english

File:

PDF, 127 KB

english, 1993

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