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Article

SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies.

Gene - 1 Jan 2014

Mauri Lucia, Barone Luca, Al Oum Muna, Del Longo Alessandra, Piozzi Elena, Manfredini Emanuela, Stanzial Franco, Benedicenti Francesco, Penco Silvana, Patrosso Maria Cristina

Abstract excerpt

BACKGROUND: Oculocutaneous Albinism (OCA) is a heterogeneous group of inherited diseases involving hair, skin and eyes. To date, six forms are recognized on the effects of different melanogenesis genes. OCA4 is caused by mutations in SLC45A2 showing a heterogeneous phenotype ranging from white hair, blue irides and nystagmus to brown/black hair, brown irides and no nystagmus. The high clinic variety often leads...

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Source

Identifiers

PMID: 24096233
DOI: 10.1016/j.gene.2013.09.053

Genes

OCA2
TYR
TYRP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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