Identification and Computational Analysis of Novel TYR and SLC45A2 Gene Mutations in Pakistani Families With Identical Non-syndromic Oculocutaneous Albinism
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DOI: 10.3389/fgene.2020.00749
Abstract: Non-syndromic oculocutaneous albinism (nsOCA) is an inherited disorder of melanin biosynthesis with autosomal recessive mode of inheritance, presenting either hypopigmented or depigmented skin, hair, and eyes. It is genetically heterogeneous with seven loci (OCA1–OCA7) reported… read more here.
Keywords: slc45a2; tyr slc45a2; oculocutaneous albinism; non syndromic ... See more keywords