Associated Papers
Parkinson's disease prevalence in Fabry disease: A survey study.
Wise AH et al.
Molecular Genetics and Metabolism Reports, 2018
The CDC Hemophilia B mutation project mutation list: a new online resource.
Li T et al.
Molecular Genetics & Genomic Medicine, 2013
24498619 (PubMed )
Supplement: mgg30001-0238-SD1.xlsx › CHBMP_Mutation_List
Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.
Shabbeer J et al.
Human Genomics, 2006
Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.
Shabbeer J et al.
Human Mutation, 2005
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