Fabry disease: 45 novel mutations in the α-galactosidase A gene causing the classical phenotype

Author:

Shabbeer Junaid,Yasuda Makiko,Luca Edlira,Desnick Robert J

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference24 articles.

1. α-Galactosidase A deficiency: Fabry disease;Desnick,2001

2. Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. α-Galactosidase activities in plasma, serum, urine, and leukocytes;Desnick;J. Lab. Clin. Med.,1973

3. Gene action in the X-chromosome of the mouse (Mus musculus L.);Lyon;Nature,1961

4. X-chromosome inactivation and the diagnosis of X-linked disease in females;Brown;J. Med. Genet.,1993

5. Fabry's disease: normal alpha-galactosidase activity and urinary—sediment glycosphingolipid levels in two obligate heterozygotes;Avila;Br. J. Dermatol.,1973

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