Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II-Reference-Cited by-同舟云学术

Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II

Published:2003 Issue:1 Volume:23 Page:47-56
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Hermans Monique M.P.,Leenen Dik van,Kroos Marian A.,Beesley Clare E.,Van der Ploeg Ans T.,Sakuraba Hitoshi,Wevers Ron,Kleijer Wim,Michelakakis Helen,Kirk Edwin P.,Fletcher Janice,Bosshard Nils,Basel-Vanagaite Lina,Besley Guy,Reuser Arnold J.J.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference47 articles.

1. Glycogenosis type II: A juvenile-specific mutation with an unusual splicing pattern and a shared mutation in African Americans

2. Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling

3. The African Origin of the Common Mutation in African American Patients with Glycogen-Storage Disease Type II

4. The identification of five novel mutations in the lysosomal acid a-(1,4) glucosidase gene from patients with glycogen storage disease type II

5. l-alanine supplementation in late infantile glycogen storage disease type II

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