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The nature of the molecular lesions in the α-galactosidase A (α-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 α-Gal A coding region as well as the flanking and intronic sequences were analyzed by PCR amplification...
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