Condition: Albinism, Oculocutaneous


rs104894314 in LOC107984363;TYR gene and Albinism, Oculocutaneous PMID 1903591 1991 In the third patient, type IB OCA results from compound heterozygosity for the same type IB allele (codon 275 Val----Phe) and a novel type IB OCA allele.

PMID 18463683 2008 Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.

PMID 13680365 2003 Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype.

PMID 18326704 2008 A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients.

PMID 19865097 2010 A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism.

PMID 7704033 1995 Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism.

PMID 24721949 2015 A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene.

PMID 16170149 2005 Temperature sensitive oculocutaneous albinism associated with missense changes in the tyrosinase gene.

PMID 19060277 2009 Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.

PMID 22294196 2012 Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism.

PMID 25919014 2015 Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism.

PMID 15381243 2004 Tyrosinase gene analysis in Japanese patients with oculocutaneous albinism.

PMID 28629449 2017 Delineating the genetic heterogeneity of OCA in Hungarian patients.

PMID 28266639 2017 Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.

PMID 9163730 1997 Prevalent and novel mutations of the tyrosinase gene in Korean patients with tyrosinase-deficient oculocutaneous albinism.

PMID 28451379 2017 Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W.

PMID 20861488 2011 Molecular and clinical characterization of albinism in a large cohort of Italian patients.

PMID 16056219 2005 Higher prevalence of OCA1 in an ethnic group of eastern India is due to a founder mutation in the tyrosinase gene.

PMID 22042571 2012 Three mutational alleles, R278X and R52I of the TYR gene and C229Y of the SLC45A2 gene, are added to the mutational spectra of Korean patients with OCA, and we report the first Korean case of OCA2 with the OCA2 gene mutations.

PMID 7902671 1993 Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA).

PMID 15635296 2004 Two novel deletions (c.937del8, c.1379del2) and a previously known nonsense mutation (R278X) in the TYR gene were identified from a total of 8 oculocutaneous albinism patients in India.

PMID 23324268 2013 Genetic analyses of Chinese patients with digenic oculocutaneous albinism.

PMID 22734612 2012 Our findings, along with the results of previous studies, indicate that the p.Cys35Arg, p.Arg278* and p.Gly419Arg alleles of TYR and the p.Asp486Tyr and c.1045-15 T > G alleles of OCA2 are the most common causes of OCA in Pakistani families.

PMID 20806075 2010 Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism.

PMID 8128955 1994 Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.

rs104894313 in TYR;LOC107984363 gene and Albinism, Oculocutaneous PMID 20861488 2011 Molecular and clinical characterization of albinism in a large cohort of Italian patients.

PMID 9242509 1997 Mutational analysis of copper binding by human tyrosinase.

PMID 18463683 2008 Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.

PMID 19865097 2010 A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism.

PMID 22734612 2012 Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population.

PMID 1903591 1991 In an inbred Amish kindred, type IB OCA results from homozygosity for a Pro----Leu substitution at codon 406.

PMID 1429711 1992 Mutational mapping of the catalytic activities of human tyrosinase.

PMID 26818737 2016 Homozygosity mapping in albinism patients using a novel panel of 13 STR markers inside the nonsyndromic OCA genes: introducing 5 novel mutations.

PMID 19060277 2009 Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.

PMID 11284711 2001 The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation.

PMID 24123366 2014 Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.

PMID 26167114 2015 Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations.

PMID 25216246 2014 Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).

PMID 21906913 2011 Assessment of tyrosinase variants and skin cancer risk in a large cohort of French subjects.

PMID 18821858 2008 Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects.

PMID 19320745 2009 Contribution of genetic factors for melanoma susceptibility in sporadic US melanoma patients.

PMID 27775880 2017 Oculocutaneous albinism type 1: link between mutations, tyrosinase conformational stability, and enzymatic activity.

PMID 13680365 2003 Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype.

PMID 1970634 1990 This mutation, which results in a proline----leucine substitution at codon 81 of the tyrosinase polypeptide (EC 1.14.18.1), was observed in 20% (6 of 30) of oculocutaneous albinism alleles from independent probands, but it was not observed in any normal individuals.

PMID 18326704 2008 A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients.

PMID 15146472 2004 Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism.

PMID 1642278 1992 Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.

PMID 8430701 1993 Molecular analyses of a tyrosinase-negative albino family.

PMID 8434585 1993 A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico.

PMID 1905879 1991 Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism.

PMID 2342539 1990 Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism.