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
Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism.
Kessel L et al.
Ophthalmic Genetics, 2021
Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.
Grønskov K et al.
Investigative Ophthalmology & Visual Science, 2009
Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.
Hutton SM et al.
The Journal of Investigative Dermatology, 2008
Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.
Oetting WS et al.
Human Mutation, 1999
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