Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism
about
Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in CaucasiansDNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnosticsNew insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 geneLarge-Scale Recombinant Expression and Purification of Human Tyrosinase Suitable for Structural StudiesMutations of TYR and MITF Genes are Associated with Plumage Colour Phenotypes in Geese.Molecular analysis of common polymorphisms within the human Tyrosinase locus and genetic association with pigmentation traitsTwo novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1)Albinism: modern molecular diagnosisTwo newly identified genetic determinants of pigmentation in Europeans.Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism.Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations.Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma.Genome-wide association study of tanning phenotype in a population of European ancestry.Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B).The Relationship between MC1R Mutation and Plumage Color Variation in Pigeons.A Missense Mutation in SLC45A2 Is Associated with Albinism in Several Small Long Haired Dog Breeds.Polymorphisms in the genes for oculocutaneous albinism type 1 and type 4 in the German population.
P2860
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P2860
Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism
description
1995 nî lūn-bûn
@nan
1995 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Autosomal recessive ocular alb ...... t tyrosinase gene polymorphism
@ast
Autosomal recessive ocular alb ...... t tyrosinase gene polymorphism
@en
Autosomal recessive ocular alb ...... t tyrosinase gene polymorphism
@en-gb
Autosomal recessive ocular alb ...... t tyrosinase gene polymorphism
@nl
type
label
Autosomal recessive ocular alb ...... t tyrosinase gene polymorphism
@ast
Autosomal recessive ocular alb ...... t tyrosinase gene polymorphism
@en
Autosomal recessive ocular alb ...... t tyrosinase gene polymorphism
@en-gb
Autosomal recessive ocular alb ...... t tyrosinase gene polymorphism
@nl
prefLabel
Autosomal recessive ocular alb ...... t tyrosinase gene polymorphism
@ast
Autosomal recessive ocular alb ...... t tyrosinase gene polymorphism
@en
Autosomal recessive ocular alb ...... t tyrosinase gene polymorphism
@en-gb
Autosomal recessive ocular alb ...... t tyrosinase gene polymorphism
@nl
P2093
P3181
P356
P1433
P1476
Autosomal recessive ocular alb ...... t tyrosinase gene polymorphism
@en
P2093
N J Lucchese
R A Spritz
R E Schnur
R G Weleber
S A Holmes
P2888
P3181
P356
10.1038/NG0195-92
P407
P577
1995-01-01T00:00:00Z
P6179
1036474296