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
Inheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian community.
Johanson HC et al.
Journal of Human Genetics, 2010
A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2).
Kato A et al.
Journal of Dermatological Science, 2003
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