African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism
about
Mutational analysis of oculocutaneous albinism: a compact reviewIn Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified.Sox6 regulation of cardiac myocyte developmentFrequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2)Mutation 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"Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 geneDNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnosticsNitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinismDistribution of oculocutaneous albinism in ZimbabweOculocutaneous albinism in an isolated Tonga community in Zimbabwe.Oculocutaneous albinism among schoolchildren in Harare, Zimbabwe.Delineating the genetic heterogeneity of OCA in Hungarian patients.The pink-eyed dilution gene and the molecular pathogenesis of tyrosinase-positive albinism (OCA2).Relationship between foveal cone specialization and pit morphology in albinismDoes levodopa improve vision in albinism? Results of a randomized, controlled clinical trial.Sequences associated with human iris pigmentation.A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population.A nonsense nucleotide substitution in the oculocutaneous albinism II gene underlies the original pink-eyed dilution allele (Oca2(p)) in mice.An intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism in southern African NegroidsIdentification of a melanosomal membrane protein encoded by the pink-eyed dilution (type II oculocutaneous albinism) gene.Oculocutaneous albinism in southern Africa: population structure, health and genetic care.Albinism and developmental delay: the need to test for 15q11-q13 deletion.Biology of epidermal and hair pigmentation in cattle: a mini-review.Clinical Insights Into Foveal Morphology in AlbinismAlbinism in Europe.High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene.Pink-eyed dilution protein controls the processing of tyrosinase.Pink-eyed dilution protein modulates arsenic sensitivity and intracellular glutathione metabolism.Melanosomal tyrosine transport in normal and pink-eyed dilution murine melanocytes.Molecular basis of congenital hypopigmentary disorders in humans: a review.Tyrosinase gene mutations in the Chinese Han population with OCA1.Mutational analysis of a Chinese family with oculocutaneous albinism type 2.Albinism in Africa: a medical and social emergency.Clinical evaluation and molecular screening of a large consecutive series of albino patients.Was skin cancer a selective force for black pigmentation in early hominin evolution?Melanins: Skin Pigments and Much More—Types, Structural Models, Biological Functions, and Formation RoutesThe Mouse Pink-Eyed Dilution Gene: Association with Hypopigmentation in Prader-Willi and Angelman Syndromes and with Human OCA2Minimal Efficacy of Nitisinone Treatment in a Novel Mouse Model of Oculocutaneous Albinism, Type 3
P2860
Q21284502-F59612F6-3771-4A48-AFA6-1B79920A07DAQ24536246-8877AE7A-CF6B-4319-8325-AAE03A95478AQ24672174-60C3C09B-90C7-41F2-BBDC-199548865EC3Q24673202-EBA135C9-1F59-4160-9150-444712389FDBQ24675211-C7C34184-F9BC-42EC-A4BB-69992A747468Q24677297-78F89AE5-104C-4D0F-A9DB-504C2D3DAFFAQ26864287-4A6550E7-3ED0-4B50-8C1D-BE86323FFC82Q28249590-72D6F0F0-3430-41E6-8565-25163E85DD10Q33677630-07673042-C95C-403D-AAFE-C68833D6CBC1Q33679381-F0411415-1C8C-4A74-BFCD-5B81CDE3A211Q33682737-4826957D-9AEA-470B-946B-8FC310FCB9FFQ33815046-8BC969AA-8C12-451C-B819-2C314E62B437Q33817888-28B52FBF-8EAD-4B89-A06B-0D074D832952Q33901490-30B81952-BF32-47A7-8D22-427D0D81DF4DQ34214644-2333BBBC-2E84-44AF-92C1-BEA77409CB83Q34287539-DC4D0577-D8C3-41F6-AAAA-EBCD24D4480AQ34354851-B27E1166-CB80-4CC7-AF10-640FA0A2495DQ35594393-3A818F0E-989F-4757-9CC0-CCDFD7A548CFQ35643311-5834C93A-40C1-421D-88EE-85287A4F782CQ35958046-B2B157C0-D196-4299-AD46-C8311B7244F2Q36227016-0CE67A80-A8BC-4396-AE84-2E637C829E6EQ36248667-3410DFEF-6410-4521-A6DE-70AE34DE03D6Q36996595-D66A4210-F520-4E65-A74F-E4F71A6C30E9Q37104043-CB572F11-898C-433C-BC60-9FFB42EB285AQ38106418-0434B600-1D7A-489C-BF11-9610E9616B2AQ38151946-178BB15A-329A-4D9A-9DD4-182B81641460Q39617200-537CA09E-06DE-4552-A665-493A19F53DC7Q39691845-7DC7F986-0EA3-484A-9A25-0A9A80E562A6Q41285523-539AD385-D0A2-4406-924A-0B7099B38DE3Q41487071-4FAFF45C-9FA0-4E66-B9CD-422F8CBB4FCAQ41596025-5B54C304-8A4C-4C3D-B85B-30DFECCB8A18Q42378433-FCE4131A-834C-49F5-8E38-20C4B55FF7AAQ47404890-A54FD459-389C-4814-AD4C-58396358F346Q51399722-74BA59BC-4E83-4904-9B89-6A20274E4F4AQ55057722-5B99D1C4-4FBE-4C6B-8B2A-70CF1CA5D66CQ56084093-2740EE7A-9B41-4BD6-89EA-9AA477E02D0CQ57251941-71D00500-4E01-49BA-9796-38B82235E82DQ57819234-12C13991-0AD2-4135-BDAB-CD9C1BE4213A
P2860
African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism
description
1994 nî lūn-bûn
@nan
1994 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
African origin of an intrageni ...... sitive oculocutaneous albinism
@ast
African origin of an intrageni ...... sitive oculocutaneous albinism
@en
African origin of an intrageni ...... sitive oculocutaneous albinism
@nl
type
label
African origin of an intrageni ...... sitive oculocutaneous albinism
@ast
African origin of an intrageni ...... sitive oculocutaneous albinism
@en
African origin of an intrageni ...... sitive oculocutaneous albinism
@nl
prefLabel
African origin of an intrageni ...... sitive oculocutaneous albinism
@ast
African origin of an intrageni ...... sitive oculocutaneous albinism
@en
African origin of an intrageni ...... sitive oculocutaneous albinism
@nl
P2093
P356
P1433
P1476
African origin of an intrageni ...... sitive oculocutaneous albinism
@en
P2093
D Durham-Pierre
J M Gardner
M H Brilliant
V del Marmol
P2888
P356
10.1038/NG0694-176
P407
P577
1994-06-01T00:00:00Z