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Article

Oculocutaneous albinism type 3 (OCA3): analysis of two novel mutations in TYRP1 gene in two Chinese patients.

Cell biochemistry and biophysics - 1 Dec 2011

Zhang Kai-hui, Li Zhuo, Lei Jie, Pang Ting, Xu Bei, Jiang Wei-ying, Li Hong-yi

Abstract excerpt

Oculocutaneous albinism (OCA) is a genetic disease characterized by the reduction or deficiency of melanin in eyes, skin, and hair. OCA exhibits genetic heterogeneity. Presently, there are four types of OCA named as OCA1, OCA2, OCA3, and OCA4. OCA3 is more common in African born blacks but rarely found in other ethnic populations. Our recent genotyping of patients with OCA of Chinese descent has identified two...

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Source

Identifiers

PMID: 21739261
DOI: 10.1007/s12013-011-9234-0

Genes

OCA2
TYRP1

Variants

Provenance

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Oculocutaneous albinism type 3 (OCA3): analysis of two novel mutations in TYRP1 gene in two Chinese patients.PMID 21739261Read ↗

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