Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism
about
Mutational analysis of oculocutaneous albinism: a compact reviewMutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous AlbinismOculocutaneous albinism type 1: link between mutations, tyrosinase conformational stability, and enzymatic activity.Delineating the genetic heterogeneity of OCA in Hungarian patients.Towards accurate characterization of clonal heterogeneity based on structural variationIncreasing the complexity: new genes and new types of albinism.Clinical utility gene card for: Oculocutaneous albinism.Genome-wide analysis reveals the extent of EAV-HP integration in domestic chickenThe Silk-protein Sericin Induces Rapid Melanization of Cultured Primary Human Retinal Pigment Epithelial Cells by Activating the NF-κB Pathway.Homozygosity mapping of a consanguineous Pakistani family affected with oculocutaneous albinism to Tyrosinase gene.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.Genetic variation in regulatory DNA elements: the case of OCA2 transcriptional regulation.The zebrafish eye-a paradigm for investigating human ocular genetics.Two Variants in SLC24A5 Are Associated with "Tiger-Eye" Iris Pigmentation in Puerto Rican Paso Fino Horses.A novel iris transillumination grading scale allowing flexible assessment with quantitative image analysis and visual matching.Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting.De Novo 1.77-Mb Microdeletion of 10q22.2q22.3 in a Girl With Developmental Delay, Speech Delay, Congenital Cleft Palate, and Bilateral Hearing Impairment.Combined Occurrence of Autosomal Dominant Aniridia and Autosomal Recessive Albinism in Several Members of a Family.A deletion in the Hermansky-Pudlak syndrome 4 (Hps4) gene appears to be responsible for albinism in channel catfish.Clinical evaluation and molecular screening of a large consecutive series of albino patients.Mutational Analysis on Membrane Associated Transporter Protein (MATP) and Their Structural Consequences in Oculocutaeous Albinism Type 4 (OCA4)-A Molecular Dynamics Approach.Application of high resolution SNP arrays in patients with congenital oral clefts in south China.Spontaneous Nystagmus in the Dark in an Infantile Nystagmus Patient May Represent Negative Optokinetic Afternystagmus.Burden of albinism: development and validation of a burden assessment toolMinimal Efficacy of Nitisinone Treatment in a Novel Mouse Model of Oculocutaneous Albinism, Type 3
P2860
Q21284502-E3BBC5A7-3DBF-461C-9888-422B0121D06AQ28546782-4CDDF47D-1650-4B11-A7EA-F01AFEDCF238Q30394454-2B518E73-35BF-4E88-AC3B-56B03C17CB19Q33815046-99B35CCE-A80F-47B8-8CDD-F2B527110105Q34196783-B644E136-6F13-43B9-BACC-16C77A340A66Q34373327-ACB2B848-E68A-4E65-9DFD-7B4300985641Q35150526-0A863CC5-526C-4F99-AE02-1004017A370AQ35807216-A37E66D3-6439-4B0B-855F-7F1787702FC6Q36651208-D31CE51E-80B3-4A34-BF93-86107FD3DC38Q36951114-EE2CD6FE-D4A8-4949-B7FD-F68808FA4680Q37104043-818BB818-1B32-4A65-81E0-4A0CDD44F858Q38106418-B86237BE-77DF-4893-8624-AE234A198199Q38151946-41E1C5EA-905E-458A-AAB7-82A42530855AQ38175526-209300E9-95A0-4D1C-9BE8-76235905E907Q38822858-9C734DC1-6E83-4A60-952F-63C7775F39E7Q41381131-FEDFAC9C-A348-4AA9-8107-E9FF79A12744Q43434077-CCB5CF48-9349-42DA-8B40-9C5206C19BF0Q48246257-66302285-F781-4065-8676-38B359D9950CQ50316797-B815C298-9C59-4031-812F-BDE88B8023A0Q51054637-9E49FB47-4401-4210-840B-7DF7B6B29F2DQ51099996-42643839-91AC-4591-9392-4EF38EEEAF40Q51399722-CC89C2F1-7D2C-4A53-970D-2A390D6966D9Q53136140-81B8319B-E25D-4C67-80C7-74F02E6F0FE8Q53992991-8EF25861-D23A-4D3D-A671-62145F44FCA6Q54987446-FE31E54C-21FF-431F-B545-C38B2448B3B6Q57155808-865AE3E4-6FF5-42C0-9296-0860B0834CBFQ57819234-40944A96-D64A-46C9-A23E-498D86C249D7
P2860
Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism
description
2013 nî lūn-bûn
@nan
2013 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի մարտին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Mutations in c10orf11, a melan ...... e autosomal-recessive albinism
@ast
Mutations in c10orf11, a melan ...... e autosomal-recessive albinism
@en
Mutations in c10orf11, a melan ...... e autosomal-recessive albinism
@en-gb
Mutations in c10orf11, a melan ...... e autosomal-recessive albinism
@nl
type
label
Mutations in c10orf11, a melan ...... e autosomal-recessive albinism
@ast
Mutations in c10orf11, a melan ...... e autosomal-recessive albinism
@en
Mutations in c10orf11, a melan ...... e autosomal-recessive albinism
@en-gb
Mutations in c10orf11, a melan ...... e autosomal-recessive albinism
@nl
prefLabel
Mutations in c10orf11, a melan ...... e autosomal-recessive albinism
@ast
Mutations in c10orf11, a melan ...... e autosomal-recessive albinism
@en
Mutations in c10orf11, a melan ...... e autosomal-recessive albinism
@en-gb
Mutations in c10orf11, a melan ...... e autosomal-recessive albinism
@nl
P2093
P2860
P1476
Mutations in c10orf11, a melan ...... e autosomal-recessive albinism
@en
P2093
Christopher M Dooley
Derek L Stemple
Elsebet Østergaard
Kaj Vilhelmsen
Karen Grønskov
Kjeld Møllgård
Lars Hansen
Mitchell P Levesque
Thomas Rosenberg
P2860
P304
P356
10.1016/J.AJHG.2013.01.006
P407
P577
2013-03-07T00:00:00Z