Associated Papers
Current landscape of Oculocutaneous Albinism in Japan.
Okamura K et al.
Pigment Cell & Melanoma Research, 2021
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.
Cirulli ET et al.
Nature Communications, 2020
31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf
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
A 4-bp deletion promoter variant (rs984225803) is associated with mild OCA4 among Japanese patients.
Okamura K et al.
Pigment Cell & Melanoma Research, 2019
Melanotic Malignant Melanoma in Oculocutaneous Albinism Type 4.
Ozaki S et al.
Acta Dermato-venereologica, 2017
Genetic analyses of oculocutaneous albinism types 2 and 4 with eight novel mutations.
Okamura K et al.
Journal of Dermatological Science, 2016
Investigating polymorphisms in membrane-associated transporter protein SLC45A2, using sucrose transporters as a model.
Reinders A et al.
Molecular Medicine Reports, 2015
Oculocutaneous albinism type 4: six novel mutations in the membrane-associated transporter protein gene and their phenotypes.
Inagaki K et al.
Pigment Cell Research, 2006
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