Author:
Dobrovolny Robert,Nazarenko Irina,Kim Jungmin,Doheny Dana,Desnick Robert J.
Subject
Genetics(clinical),Genetics
Reference39 articles.
1. Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severly and mildy affected hemizygotes and heterozygotes;Ashton-Prolla;J Invest Med,2000
2. Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene;Bernstein;J Clin Invest,1989
3. Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3′ untranslated region;Bishop;Proc Natl Acad Sci USA,1988
4. Alu retrotransposition-mediated deletion;Callinan;J Mol Biol,2005
5. Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes;Desnick;J Lab Clin Med,1973
Cited by
13 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献