Caveat to genotype-phenotype correlation in mucopolysaccharidosis type II: Discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase gene-Reference-Cited by-同舟云学术

Caveat to genotype-phenotype correlation in mucopolysaccharidosis type II: Discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase gene

Published:1993 Issue:3 Volume:2 Page:235-237
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Whitley Chester B.,Anderson Rose Ann,Aronovich Elena L.,Crotty Paul L.,Anyane-Yeboa Kwame,Russo Donna,Warburton Dorothy

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference10 articles.

1. Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome)

2. The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

3. Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression

4. Assessment of iduronate-2-sulfatase mRNA expression in Hunter syndrome (mucopolysaccharidosis type II)

5. Detection of point mutations and a gross deletion in six Hunter Syndrome patients

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