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Article

Higher prevalence of OCA1 in an ethnic group of eastern India is due to a founder mutation in the tyrosinase gene.

Molecular vision - 19 Jul 2005

Chaki Moumita, Mukhopadhyay Arijit, Chatterjee Shamba, Das Madhusudan, Samanta Swapan, Ray Kunal

Abstract excerpt

PURPOSE: Oculocutaneous albinism (OCA) is a group of autosomal recessive disorders characterized by deficient synthesis of melanin pigment and associated with common developmental abnormalities of the eye. It is one of the major causes of childhood blindness in India. The disease is common among an ethnic group (Tili) of Eastern India, which represents about 12.56% of the Bankura district population...

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Share to Albinism, Oculocutaneous
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Monophenol Monooxygenase

Share to Polymorphism, Restriction Fragment Length

Share to Polymorphism, Single-Stranded Conformational

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Source

Identifiers

PMID: 16056219

Genes

TYR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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