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Article

Identification of a novel GLA mutation (Y88C) in a Korean family with Fabry nephropathy: a case report.

BMC medical genetics - 24 Oct 2016

Chong Yosep, Kim Minyoung, Koh Eun Sil, Shin Seok Joon, Kim Ho-Shik, Chung Sungjin

Abstract excerpt

BACKGROUND: Fabry disease is a rare X-linked lysosomal storage disorder caused by α-galactosidase A deficiency. With the advancement of molecular diagnostic tools, more disease-causing mutations in α-galactosidase A (GLA) have been identified in Fabry disease. We found a novel mutation in a Korean family with predominant renal manifestations of the disease. CASE PRESENTATION: A 24-year-old man who wanted to...

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Identifiers

PMID: 27776503
DOI: 10.1186/s12881-016-0338-7
PMCID: PMC5078899

Genes

GLA

Variants

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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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