Associated Papers
Current landscape of Oculocutaneous Albinism in Japan.
Okamura K et al.
Pigment Cell & Melanoma Research, 2021
Identification and Computational Analysis of Novel TYR and SLC45A2 Gene Mutations in Pakistani Families With Identical Non-syndromic Oculocutaneous Albinism.
Bibi N et al.
Frontiers in Genetics, 2020
32849781 (PubMed )
Supplement: Data_Sheet_2.docx
Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants.
Rayner JE et al.
Plos One, 2020
32966289 (PubMed )
Supplement: pone.0238529.s002.docx
Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W.
Gao J et al.
Cell & Bioscience, 2017
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.
Simeonov DR et al.
Human Mutation, 2013
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