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Article

A novel small insertion mutation, C.1030_1031ins (T) in α-galactosidase A leads to renal variant fabry disease.

Renal failure - 1 Jan 2012

Choi Joon Seok, Kim Chang Seong, Park Jeong Woo, Bae Eun Hui, Ma Seong Kwon, Choi Yoo Duk, Kim Gu Hwan, Yoo Han Wook, Kim Soo Wan

Abstract excerpt

Fabry disease is a rare X-linked recessive glycosphingolipid storage disease that is caused by a deficiency of the lysosomal α-galactosidase A (GLA) enzyme, encoded by the GLA gene. This deficiency leads to the accumulation of glycosphingolipids throughout the body, which, in turn, causes multisystem diseases associated with renal, cardiovascular, and cerebrovascular complications. Recent molecular studies of GLA...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22260214
DOI: 10.3109/0886022X.2011.647300

Genes

GLA

Provenance

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.

Related research

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A novel small insertion mutation, C.1030_1031ins (T) in α-galactosidase A leads to renal variant fabry disease.PMID 22260214Read ↗

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