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
Identification of 12 OCA Cases in Chinese Population and Two Novel Variants.
Zhong Z et al.
Frontiers in Genetics, 2022
Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism.
Kessel L et al.
Ophthalmic Genetics, 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
A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism.
Wei A et al.
The Journal of Investigative Dermatology, 2010
Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.
Grønskov K et al.
Investigative Ophthalmology & Visual Science, 2009
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