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Article

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

Molecular genetics and metabolism - 1 May 2002

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

Abstract excerpt

The nature of the molecular lesions in the alpha-galactosidase A (alpha-Gal A) gene causing Fabry disease was determined in 50 unrelated families with the classic phenotype of this X-linked recessive lysosomal storage disease. Genomic DNA was isolated from affected males or obligate carrier females, and the entire alpha-Gal A coding region as well as the flanking and intronic sequences were analyzed by PCR...

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Identifiers

PMID: 12175777
DOI: 10.1016/s1096-7192(02)00012-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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