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Article

High-throughput screening identified disease-causing mutants and functional variants of α-galactosidase A gene in Japanese male hemodialysis patients.

Journal of human genetics - 1 Sept 2012

Doi Kent, Noiri Eisei, Ishizu Tomoko, Negishi Kousuke, Suzuki Yoshifumi, Hamasaki Yoshifumi, Honda Kenjiro, Fujita Toshiro, Tsukimura Takahiro, Togawa Tadayasu, Saito Seiji, Sakuraba Hitoshi

Abstract excerpt

Fabry disease is a genetic disorder caused by deficient activity of lysosomal enzyme α-galactosidase A (GLA) and end-stage renal disease (ESRD) will be present after accumulation of glycosphingolipids within the kidney. Undiagnosed atypical variants of Fabry disease, which are limited to renal involvement, were found in several ESRD patient populations. On the other hand, unexpectedly high frequencies of male...

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Identifiers

PMID: 22695894
DOI: 10.1038/jhg.2012.68

Genes

GLA

Variants

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