MC1R gene variants involvement in human OCA phenotype

Article English OPEN
Saleha Shamim; Khan Taj Ali; Zafar Shaista;
(2016)
  • Publisher: De Gruyter
  • Journal: Open Life Sciences (issn: 2391-5412)
  • Related identifiers: doi: 10.1515/biol-2016-0020
  • Subject: melanin synthesis | hpopigmentation | OCA phenotype | Oculocutaneous albinism | MC1R variants | Biology (General) | QH301-705.5
    mesheuropmc: eye diseases | genetic structures | integumentary system

Oculocutaneous albinism (OCA) is a genetic disorder of melanin synthesis that results in hypopigmentation in hair, skin and eyes. OCA has been reported in individuals from all ethnic backgrounds but it is more common among those with Europeans ancestry. OCA is heterogen... View more
Share - Bookmark