Volume 6; Issue 1

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Human Mutation
Volume 6; Issue 1

Human Mutation

Volume 6; Issue 1

1

Masthead

Journal:

Year:

1995

Language:

english

File:

PDF, 98 KB

english, 1995

2

Mutations in muscle phosphofructokinase gene

Nina Raben, Jeffrey B. Sherman

Journal:

Year:

1995

Language:

english

File:

PDF, 614 KB

english, 1995

3

Where phenotype does not match genotype

Journal:

Year:

1995

Language:

english

File:

PDF, 180 KB

english, 1995

4

Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis

Hennie Bikker, Thomas Vulsma, Frank Baas, Jan J. M. de Vijlder

Journal:

Year:

1995

Language:

english

File:

PDF, 736 KB

english, 1995

5

Homozygosity for a null allele of the insulin receptor gene in a patient with leprechaunism

Jennifer Hone, Domenico Accili, Helen Psiachou, Jamie Alghband-Zadeh, Sally Mitton, Efrat Wertheimer, Leonard Sinclair, Simeon I. Taylor

Journal:

Year:

1995

Language:

english

File:

PDF, 600 KB

english, 1995

6

Mutation heterogeneity of cystic fibrosis in France: Screening by denaturing gradient gel electrophoresis using psoralen-modified oligonucleotide

Thierry Bienvenu, Cecile Cazeneuve, Jean-Claude Kaplan, Cherif Beldjord

Journal:

Year:

1995

Language:

english

File:

PDF, 595 KB

english, 1995

7

Detection and genetic analysis of β-thalassemia mutations by competitive oligopriming

Aglaia Athanassiadou, Adamandia Papachatzopoulou, Richard A. Gibbs

Journal:

Year:

1995

Language:

english

File:

PDF, 537 KB

english, 1995

8

Molecular characterization of galactosemia (Type 1)mutations in Japanese

Jiro Ashino, Yoshiyuki Okano, Itsuzin Suyama, Takeshi Yamazaki, Makoto Yoshino, Jun-Ichi Furuyama, Hsien-Chin Lin, Juergen K. V. Reichardt, Gen Isshiki

Journal:

Year:

1995

Language:

english

File:

PDF, 631 KB

english, 1995

9

Three novel aniridia mutations in the human PAX6 gene

Aruna Martha, Louise C. Strong, Robert E. Ferrell, Grady F. Saunders

Journal:

Year:

1995

Language:

english

File:

PDF, 521 KB

english, 1995

10

Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B

Philippe Latour, Françoise Blanquet, Eva Nelis, Christine Bonnebouche, Fraņoise Chapon, Philippe Diraison, Elisabeth Ollagnon, André Dautigny, Danielle Pham-Dinh, Guy Chazot, Michel Boucherat, Christi

Journal:

Year:

1995

Language:

english

File:

PDF, 437 KB

english, 1995

11

Four novel mutations underlying mild or intermediate forms of α-L-iduronidase deficiency (MPS IS and MPS IH/S)

Phuong T. Tieu, Gideon Bach, Anna Matynia, Michael Hwang, Elizabeth F. Neufeld

Journal:

Year:

1995

Language:

english

File:

PDF, 494 KB

english, 1995

12

Haplotype analysis in gelsoiin-related amyloidosis reveals independent origin of identical mutation (G654A) of gelsolin in Finland and Japan

Tiina Paunio, Yoshihide Sunada, Sari Kiuru, Hideo Makishita, Shu-Ichi Ikeda, Jean Weissenbach, Jorma Palo, Leena Peltonen

Journal:

Year:

1995

Language:

english

File:

PDF, 521 KB

english, 1995

13

Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1

Si Houn Hahn, Donna Krasnewich, Mark Brantly, Eli Anne Kvittingen, William A. Gahl

Journal:

Year:

1995

Language:

english

File:

PDF, 719 KB

english, 1995

14

Using information content and base frequencies to distinguish mutations from genetic polymorphisms in splice junction recognition sites

Peter K. Rogan, Thomas D. Schneider

Journal:

Year:

1995

Language:

english

File:

PDF, 247 KB

english, 1995

15

Detection of sequence variants in the gene encoding the β3 chain of laminin 5 (LAMB3)

Leena Pulkkinen, John A. McGrath, Angela M. Christiano, Jouni Uitto

Journal:

Year:

1995

Language:

english

File:

PDF, 691 KB

english, 1995

16

Identification of a one-basepair deletion in exon 6 of the dystrophin gene

Gūl Nihan Kavaslar, Milhan Telatar, Piraye Serdarog̃lu, Feza Deymeer, Coşkun Õzdemir, Asliban Tolun

Journal:

Year:

1995

Language:

english

File:

PDF, 152 KB

english, 1995

17

Identification of a mutation, N543H, in exon 11 of the low-density lipoprotein receptor gene in a French family with familial hypercholesterolemia

F. Tricot-Guerber, B. Saint-Jore, K. Valenti, T. Foulon, M. Bost, A. J. Hadjian

Journal:

Year:

1995

Language:

english

File:

PDF, 183 KB

english, 1995

18

An Alul− polymorphism in the HEXA gene is common in Ashkenazi and Sephardic Jews, Israeli Arabs, and French Canadians of Quebec and Northern New England

Julia Grinshpun, Rami Khosravi, Lea Peleg, Boleslaw Goldman, Feige Kaplan, Barbara Triggs-Raine, Ruth Navon

Journal:

Year:

1995

Language:

english

File:

PDF, 194 KB

english, 1995

19

Mucopolysaccharidosis type I: Identification of 13 novel mutations of the α-L-iduronidase gene

Susanna Bunge, Wim J. Kleijer, Cordula Steglich, Michael Beck, Eberhard Schwinger, Andreas Gal

Journal:

Year:

1995

Language:

english

File:

PDF, 345 KB

english, 1995

20

Relatively high prevalence of the CFTR mutations, G85E and 1154insTC

Kenneth J. Friedman, Michelle L. Blalock, Ruth A. Heim, Lawrence M. Silverman

Journal:

Year:

1995

Language:

english

File:

PDF, 153 KB

english, 1995

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