ArticleAmerican journal of human genetics1995
Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2).
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed.
- Article
- Seeing in Color: Inclusion and Characterization of Hereditary Eye Disease in African Americans.Translational vision science & technology · 2024Review
- Article
- Review
- Genetic analysis and prenatal diagnosis of 20 Chinese families with oculocutaneous albinism.Journal of clinical laboratory analysis · 2021Article
- Feasibility Study of a Smartphone Application for Detecting Skin Cancers in People With Albinism.JCO global oncology · 2020Article
- Burden of albinism: development and validation of a burden assessment tool.Orphanet journal of rare diseases · 2018Article
- Article
- Report of a novel OCA2 gene mutation and an investigation of OCA2 variants on melanoma risk in a familial melanoma pedigree.Journal of dermatological science · 2013Article
- Molecular analysis of Korean patients with oculocutaneous albinism.Japanese journal of ophthalmology · 2012Article
- Two cases of burns in children from French Guinea with oculocutaneous albinism.Annals of burns and fire disasters · 2010Article
- Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.American journal of human genetics · 2008Article
- Oculocutaneous albinism type 2 (OCA2) with homozygous 2.7-kb deletion of the P gene and sickle cell disease in a Cameroonian family. Identification of a common TAG haplotype in the mutated P gene.Journal of human genetics · 2007Article
- Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico.The Journal of investigative dermatology · 2006Article
- Biased exon/intron distribution of cryptic and de novo 3' splice sites.Nucleic acids research · 2005Article
- Oculocutaneous albinism in an isolated Tonga community in Zimbabwe.Journal of medical genetics · 1997Article
- Hypopigmentation in the Prader-Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele.American journal of medical genetics · 1997Article
Corrections and comments
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Authors and funding
4 authors.
Funding
Abstract
Type II oculocutaneous albinism (OCA2) is an autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in the skin, hair, and eyes. OCA2, which results from mutations of the P gene, is the most frequent type of albinism in African and African-American patients. OCA2 is especially frequent in Tanzania, where it occurs with an incidence of approximately 1/1,400. We have identified abnormalities of the P gene in each of 13 unrelated patients with OCA2 from Tanzania. One of these, a deletion of exon 7, is strongly predominant, accounting for approximately 77% of mutant alleles in this group of patients.
Indexed as
Identifiers
7762554PMC1801108What OpenQuestion holds
Registered trials
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