ArticleAmerican journal of human genetics1993
Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA).
Article in American journal of human genetics, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 38 citations in OpenAlex.
- Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYR.European journal of human genetics : EJHG · 2026Article
- The molecular landscape of oculocutaneous albinism in India and its therapeutic implications.European journal of human genetics : EJHG · 2024Article
- Review
- Mutational Analysis of TYR, OCA2, and SLC45A2 Genes in Chinese Families with Oculocutaneous Albinism.Molecular genetics & genomic medicine · 2019Article
- Mutation analysis of a Chinese family with oculocutaneous albinism.Oncotarget · 2016Article
- Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism.PloS one · 2015Article
- Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population.Orphanet journal of rare diseases · 2012Article
- Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism.Molecular vision · 2010Article
- Genetic Analysis of Oculocutaneous Albinism Type1A (OCA1A) in an Iranian Family.Iranian journal of public health · 2010Article
- Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype.Human genetics · 2003Article
- Differentiation of bacterial 16S rRNA genes and intergenic regions and Mycobacterium tuberculosis katG genes by structure-specific endonuclease cleavage.Journal of clinical microbiology · 1996Article
- Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.American journal of human genetics · 1994Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
Oculocutaneous albinism (OCA) is a group of autosomal recessive disorders characterized by deficient synthesis of melanin pigment. Type I (tyrosinase-deficient) OCA results from mutations of the tyrosinase gene (TYR gene) encoding tyrosinase, the enzyme that catalyzes the first two steps of melanin biosynthesis. Mutations of the TYR gene have been identified in a large number of patients, most of Caucasian ethnic origin, with various forms of type I OCA. Here, we present an analysis of the TYR gene in eight Indo-Pakistani patients with type I OCA. We describe four novel TYR gene mutations and a fifth mutation previously observed in a Caucasian patient.
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7902671PMC1682481W1554756885What OpenQuestion holds
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.