Fabry Disease: Twenty Novel α-Galactosidase A Mutations and Genotype-Phenotype Correlations in Classical and Variant Phenotypes

被引：0
作者：
Dominique P. Germain
Junaid Shabbeer
Sylvie Cotigny
Robert J. Desnick
机构：
[1] Hôpital Européen Georges Pompidou,Department of Genetics
[2] Mount Sinai School of Medicine of New York University,Department of Human Genetics
来源：
Molecular Medicine | 2002年 / 8卷
关键词：
Fabry Disease; Classical Severe Phenotype; Mild Renal Involvement; Single Nucleotide Insertion; Acroparesthesias;
D O I：
暂无
中图分类号：
学科分类号：
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页码：306 / 312
页数：6
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