Associated Papers
Novel compound heterozygous mutations in OCA2 gene were identified in a Chinese family with oculocutaneous albinism.
Jiang B et al.
Molecular Genetics & Genomic Medicine, 2024
37882226 (PubMed )
Supplement: MGG3-12-e2297-s002.xlsx › Supplementary_Table_2
Structural insights into pink-eyed dilution protein (Oca2).
Mesdaghi S et al.
Bioscience Reports, 2023
An intracellular anion channel critical for pigmentation.
Bellono NW et al.
Elife, 2014
Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.
Oetting WS et al.
Human Mutation, 1999
Novel mutations of the P gene in type II oculocutaneous albinism (OCA2).
Spritz RA et al.
Human Mutation, 1997
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