Associated Papers
Oculocutaneous albinism and bleeding diathesis due to a novel deletion in the HPS3 gene.
Marek-Yagel D et al.
Frontiers in Genetics, 2022
Current landscape of Oculocutaneous Albinism in Japan.
Okamura K et al.
Pigment Cell & Melanoma Research, 2021
Genetic Analysis of 28 Chinese Families With Tyrosinase-Positive Oculocutaneous Albinism.
Ma L et al.
Frontiers in Genetics, 2021
Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations.
Yang Q et al.
Bmc Medical Genetics, 2019
Two novel mutations detected in Japanese patients with oculocutaneous albinism.
Ito S et al.
Journal of Dermatological Science, 2006
Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P.
Graw J et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2006
A patient with subclinical oculocutaneous albinism type 2 diagnosed on getting severely sunburned.
Kawai M et al.
Dermatology (basel, Switzerland), 2005
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
Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.
Oetting WS et al.
Human Mutation, 1999
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