Volume 92; Issue 5

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Human Genetics
Volume 92; Issue 5

Human Genetics

Volume 92; Issue 5

1

Data on the CGG repeat at the fragile X site in the non-retarded Japanese population and family suggest the presence of a subgroup of normal alleles predisposing to mutate

Tadao Arinami, Midori Asano, Kimiko Kobayashi, Hisako Yanagi, Hideo Hamaguchi

Journal:

Year:

1993

Language:

english

File:

PDF, 778 KB

english, 1993

2

Molecular genetics of GM2-gangliosidosis AB variant: a novel mutation and expression in BHK cells

Maria Schröder, Doris Schnabel, Robert Hurwitz, Elisabeth Young, Kunihiko Suzuki, Konrad Sandhoff

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Year:

1993

Language:

english

File:

PDF, 743 KB

english, 1993

3

Molecular and cytogenetic analyses of autism in Taiwan

Shuan-Yow Li, Yung-Cheng Joseph Chen, Te-Jen Lai, Chuan-Yu Hsu, Yi-Chun Wang

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Year:

1993

Language:

english

File:

PDF, 585 KB

english, 1993

4

Molecular analysis of factor VII deficiency in Italy: a frequent mutation (FVII Lazio) in a repeated intronic region

F. Bernardi, P. Patracchini, D. Gemmati, M. Ferrati, P. Arcieri, M. Papacchini, R. Redaelli, F. Baudo, G. Mariani, G. Marchetti

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Year:

1993

Language:

english

File:

PDF, 586 KB

english, 1993

5

An adult-type metachromatic leukodystrophy caused by substitution of serine for glycine-122 in arylsulfatase A

Koichi Honke, Takahiko Kobayashi, Tetsuya Fujii, Shinsei Gasa, Mei Xu, Yuji Takamaru, Rui Kondo, Shoji Tsuji, Akira Makita

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Year:

1993

Language:

english

File:

PDF, 687 KB

english, 1993

6

Supernumerary marker chromosomes in peripheral blood cells of hepatitis B virus chronic carriers

Daniela Simon, W. Thomas London, Barbara B. Knowles

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Year:

1993

Language:

english

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PDF, 720 KB

english, 1993

7

Human malformations similar to those in the mouse mutation disorganization(Ds)

Nathaniel H. Robin, Olusina O. Adewale, Donna McDonald-McGinn, Joseph H. Nadeau, Elaine H. Zackai, Maja Bućan

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Year:

1993

Language:

english

File:

PDF, 723 KB

english, 1993

8

Parental origin of triploidy in human fetuses: evidence for genomic imprinting

Deborah E. McFadden, Linda C. Kwong, Irene Y. L. Yam, Sylvie Langlois

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Year:

1993

Language:

english

File:

PDF, 1.16 MB

english, 1993

9

Frequency of glucose-6-phosphate dehydrogenase (G6PD) mutations in Chinese, Filipinos, and Laotians from Hawaii

Y. Edward Hsia, Faye Miyakawa, John Baltazar, Nathan S. P. Ching, Juliet Yuen, Beryl Westwood, Ernest Beutler

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Year:

1993

Language:

english

File:

PDF, 656 KB

english, 1993

10

Diverse polymorphism within a short coding region of the human aldehyde dehydrogenase-5 (ALDH5) gene

David Sherman, Vibha Davé, Lily C. Hsu, Timothy J. Peters, Akira Yoshida

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Year:

1993

Language:

english

File:

PDF, 471 KB

english, 1993

11

Paternal duplication of chromosome 5q11.2–5q14 in a male born with craniostenosis, ear tags, kidney dysplasia and several other anomalies

E. J. Breslau-Siderius, J. Th. Wijnen, J. G. Dauwerse, J. M. Pater, F. A. Beemer, P. Meera Khan

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Year:

1993

Language:

english

File:

PDF, 1.01 MB

english, 1993

12

Hereditary triosephosphate isomerase (TPI) deficiency: two severely affected brothers one with and one without neurological symptoms

Susan Hollán, H. Fujii, A. Hirono, K. Hirono, H. Karro, S. Miwa, Veronica Harsányi, Éva Gyódi, Marianna Inselt-Kovács

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Year:

1993

Language:

english

File:

PDF, 696 KB

english, 1993

13

Molecular analysis of mutations in the gene FMR-1 segregating in fragile X families

P. Steinbach, D. Wöhrle, G. Tariverdian, I. Kennerknecht, G. Barbi, H. Edlinger, H. Enders, M. Götz-Sothmann, H. Heilbronner, D. Hosenfeld, R. Kircheisen, F. Majewski, P. Meinecke, E. Passarge, A. Sch

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Year:

1993

Language:

english

File:

PDF, 1.47 MB

english, 1993

14

Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75→Cys mutation in the procollagen type II gene (COL2A1)

Charlene J. Williams, Eileen L. Considine, Robert G. Knowlton, Antonio Reginato, Guillermo Neumann, David Harrison, Paul Buxton, Sergio Jimenez, Darwin J. Prockop

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Year:

1993

Language:

english

File:

PDF, 1.56 MB

english, 1993

15

Acceptor splice site mutation in the invariant AG of intron 5 of the protein C gene, causing type I protein C deficiency

José Manuel Soria, Jordi Fontcuberta, Miguel Chillón, Montserrat Borrell, Xavier Estivill, Núria Sala

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Year:

1993

Language:

english

File:

PDF, 344 KB

english, 1993

16

A rare reciprocal translocation (12;21) segregating for nine generations

Sari Koskinen, Tuija Onnelainen, Albert Chapelle, Juha Kere

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Year:

1993

Language:

english

File:

PDF, 393 KB

english, 1993

17

Gaucher disease (Norrbottnian type III): probable founders identified by genealogical and molecular studies

Niklas Dahl, Per-Olof Hillborg, Agneta Olofsson

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Year:

1993

Language:

english

File:

PDF, 303 KB

english, 1993

18

Assignment of the human aggrecan gene AGC1 to 15q25→q26.2 by in situ hybridization

Walter Just, Christine Klett, Ulrich Vetter, Walther Vogel

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Year:

1993

Language:

english

File:

PDF, 401 KB

english, 1993

19

A novel Cys-214-Ser mutation in the peripherin/RDS gene in a Japanese family with autosomal dominant retinitis pigmentosa

Masamichi Saga, Yukihiko Mashima, Kiyoshi Akeo, Yoshihisa Oguchi, Jun Kudoh, Nobuyoshi Shimizu

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Year:

1993

Language:

english

File:

PDF, 452 KB

english, 1993

20

Centromeric association of a microchromosome in a Turner syndrome patient with a pseudodicentric Y

H. Rivera, M. G. Domínguez, A. I. Vásquez, A. L. Ramos, R. Fragoso

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Year:

1993

Language:

english

File:

PDF, 759 KB

english, 1993

21

A myeloblastin/proteinase-3 cDNA clone identifies aBglII and aPvuII restriction fragment length polymorphism

J. Schwaller, T. Chen, M. F. Fey, A. Tobler

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Year:

1993

Language:

english

File:

PDF, 139 KB

english, 1993

22

Announcements

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Year:

1993

Language:

english

File:

PDF, 98 KB

english, 1993