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Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations

13 Jun 2019

Abstract excerpt

BACKGROUND: Oculocutaneous albinism (OCA) is a human autosomal-recessive hypopigmentation disorder with hypopigmentation in the skin, hair, and eyes. OCA1 and OCA2 are caused by mutations of the TYR and OCA2 genes, respectively, which are responsible for most oculocutaneous albinism. However, the incidence of oculocutaneous albinism patients in Guangxi remains unclear. METHODS: To evaluate the molecular basis of...

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PMID: 31196117
DOI: 10.1186/s12881-019-0842-7

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