ArticleAmerican journal of human genetics1994
Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.
Article in American journal of human genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
22 citing papers in PubMed, 62 citations in OpenAlex.
- Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.Scientific reports · 2017Trial
- The importance of genetic counselling and testing in inherited eye diseases: A population-based retrospective study.PloS one · 2025Article
- Ancestral origins of TYR and OCA2 gene mutations in oculocutaneous albinism from two admixed populations in Colombia.PloS one · 2024Article
- A community-science approach identifies genetic variants associated with three color morphs in ball pythons (Python regius).PloS one · 2022Article
- Oculocutaneous albinism and bleeding diathesis due to a novel deletion in theFrontiers in genetics · 2022Article
- Enhancing Catecholase Activity of a Recombinant Human Tyrosinase Through Multiple Strategies.Iranian journal of biotechnology · 2020Article
- Efficient derivation of knock-out and knock-in rats using embryos obtained by in vitro fertilization.Scientific reports · 2019Article
- Mutational Analysis of TYR, OCA2, and SLC45A2 Genes in Chinese Families with Oculocutaneous Albinism.Molecular genetics & genomic medicine · 2019Article
- Efficient base editing with expanded targeting scope using an engineered Spy-mac Cas9 variant.Cell discovery · 2019Article
- Rare germline variants in known melanoma susceptibility genes in familial melanoma.Human molecular genetics · 2017Article
- Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism.PloS one · 2015Article
- Allele-specific genome editing and correction of disease-associated phenotypes in rats using the CRISPR-Cas platform.Nature communications · 2014Article
- Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population.Orphanet journal of rare diseases · 2012Article
- Origins of albino and hooded rats: implications from molecular genetic analysis across modern laboratory rat strains.PloS one · 2012Article
- Molecular analysis of Korean patients with oculocutaneous albinism.Japanese journal of ophthalmology · 2012Article
- Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism.Molecular vision · 2010Article
- Comparison of visual function in pigmented and albino rats by electroretinography and visual evoked potentials.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2008Article
- Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.The Journal of investigative dermatology · 2008Article
- 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
- Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype.Human genetics · 2003Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
We have analyzed the tyrosinase (TYR) gene in 38 unrelated patients with oculocutaneous albinism (OCA), derived from several different ethnic groups of the diverse population of Israel. We detected TYR gene mutations in 23 of the 34 patients with apparent type I (i.e., tyrosinase-deficient) OCA and in none of the patients with other clinical forms of albinism. Among Moroccan Jews with type IA (i.e., tyrosinase-negative) OCA, we detected a highly predominant mutant allele containing a missense substitution, Gly47Asp (G47D). This mutation occurs on the same haplotype as in patients from the Canary Islands and Puerto Rico, suggesting that the G47D mutation in these ethnically distinct populations may stem from a common origin.
Indexed as
Identifiers
8128955PMC1918101W1518631557What OpenQuestion holds
Registered trials
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.