A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism.

A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism.

Item
http://www.wikidata.org/entity/Q37532574
Complete association between a retroviral insertion in the tyrosinase gene and the recessive white mutation in chickensEndoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinismA melanocyte-specific gene, Pmel 17, maps near the silver coat color locus on mouse chromosome 10 and is in a syntenic region on human chromosome 12The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3"A nonsense mutation in the tyrosinase gene causes albinism in water buffaloMolecular and clinical characterization of albinism in a large cohort of Italian patients.Molecular analyses of a tyrosinase-negative albino familySoluble tyrosinase is an endoplasmic reticulum (ER)-associated degradation substrate retained in the ER by calreticulin and BiP/GRP78 and not calnexin.Molecular basis of congenital hypopigmentary disorders in humans: a review.Unraveling the melanocyte.New nucleotide sequence data on the EMBL File Server
P2860

A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism.

Item
http://www.wikidata.org/entity/Q37532574
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on June 1991
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
A single base insertion in the ...... ative oculocutaneous albinism.
@en
A single base insertion in the ...... ative oculocutaneous albinism.
@nl
type
label
A single base insertion in the ...... ative oculocutaneous albinism.
@en
A single base insertion in the ...... ative oculocutaneous albinism.
@nl
prefLabel
A single base insertion in the ...... ative oculocutaneous albinism.
@en
A single base insertion in the ...... ative oculocutaneous albinism.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P5875
P698
P921
P932
P356
P1433
P1476
A single base insertion in the ...... ative oculocutaneous albinism.
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P5875
P698
P921
P932