Comprehensive analysis of the molecular bases of OCA in Indians

Background OCA is a group of autosomal recessive disorders characterized by hypopigmentation and abnormalities related to ocular development. Mutations in genes regulating melanin-biosynthesis cause four classical types of OCA (OCA 1-4). The clinical spectrum of OCA often depends on the pigmentation threshold of a patient, highlighting the importance of ethnicspecific SNPs. We aimed to understand the molecular bases of OCA in India, where it is one of the four major causes of childhood blindness.

• Publication year

  2010

• Venue

  Genome Biology

• Publication date

  2010-10-11

• Fields of study

  Biology, Medicine, Geography

• Identifiers
  DOI 10.1186/gb-2010-11-s1-p32PMCID 3026262
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar

• No claims are published for this paper.

• No concepts are published for this paper.

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