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Article

A new point mutation in the COL4A5 gene described in a Spanish family with X-linked Alport syndrome.

Nephron - 1 Apr 2002

Palenzuela Lluís, Callís Lluís, Vilalta Ramon, Vila Angel, Nieto José L, Meseguer Anna

Abstract excerpt

BACKGROUND/AIM: Alport syndrome is a hereditary glomerulonephritis, X-linked in 85% of the cases. This form is associated with mutations in the COL4A5 gene which encodes the alpha5 chain of type IV collagen. We have performed the mutational analysis of the COL4A5 gene in a Spanish family with X-linked Alport syndrome. METHODS: We have analyzed three polymorphic markers close to the gene to confirm the X...

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Identifiers

PMID: 11961405
DOI: 10.1159/000054734

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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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