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Identifying genetic defects in oculocutaneous albinism patients of West Bengal, Eastern India.

Molecular biology reports - 16 Jul 2024

Dutta Tithi, Ganguly Kausik, Saha Arpan, Sil Asim, Ray Kunal, Sengupta Mainak

Abstract excerpt

BACKGROUND: Oculocutaneous albinism (OCA) is a congenital heterogeneous group of autosomal recessive disorders characterized by the absence or loss of melanin in the skin, eyes and hair of the affected individuals. Based on the mutated gene, OCA has been classified into eight sub-types (OCA1-8) with overlapping clinical phenotypes. Mutations in the TYR gene cause OCA1, the most prevalent OCA worldwide including...

Topics

Albinism, Oculocutaneous
Humans
India
Membrane Transport Proteins
Female
Male
Mutation
Monophenol Monooxygenase
Antigens, Neoplasm
Pedigree
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 39014059
DOI: 10.1007/s11033-024-09777-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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