Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.
about
Mutational analysis of oculocutaneous albinism: a compact reviewDNA 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 albinismThe Sinocyclocheilus cavefish genome provides insights into cave adaptationOculocutaneous albinism type 1: link between mutations, tyrosinase conformational stability, and enzymatic activity.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.Increasing the complexity: new genes and new types of albinism.Microarray analysis of iris gene expression in mice with mutations influencing pigmentation.Molecular and clinical characterization of albinism in a large cohort of Italian patients.Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations.Morphological Characters and Transcriptome Profiles Associated with Black Skin and Red Skin in Crimson Snapper (Lutjanus erythropterus)N-Ethylmaleimide-Sensitive Factor b (nsfb) Is Required for Normal Pigmentation of the Zebrafish Retinal Pigment Epithelium.Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani populationMolecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.Mutation analysis of a Chinese family with oculocutaneous albinism.Albinism in Europe.Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B).Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies.Rare germline variants in known melanoma susceptibility genes in familial melanoma.Computational analysis of histidine mutations on the structural stability of human tyrosinases leading to albinism insurgence.Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting.Clinical evaluation and molecular screening of a large consecutive series of albino patients.Functional assessment of tyrosinase variants identified in individuals with albinism is essential for unequivocal determination of genotype-to-phenotype correlation.Mutational spectrum of the TYR and SLC45A2 genes in Pakistani families with oculocutaneous albinism, and potential founder effect of missense substitution (p.Arg77Gln) of tyrosinase.Burden of albinism: development and validation of a burden assessment tool
P2860
Q21284502-725EDD07-FA32-48DF-9E80-360C9F8A89D4Q26864287-B25801DE-F097-4A35-A91A-00D256A1A738Q28249590-FA0E1551-8FD7-4C86-9E53-DE4745BC5B91Q28603306-CA094E7E-3188-4230-9291-4EB8E493F9B9Q30394454-19D4A735-8B1D-45CC-841B-E8472C762C63Q33608472-C534849D-A905-44BB-B34E-B06B7C8D51C2Q34373327-A4AA4BC7-0051-4A7F-A384-EA654A9E3873Q34646618-7A6044BC-D2CD-43A8-873E-006C68956924Q35005886-1A3EEE23-D031-457B-809A-332FE430A3D5Q35843419-03135B79-7EB9-4892-94CE-B8A94E0457F9Q36324643-0453E998-BB57-4488-991E-67DF1B7441DCQ36345508-467AD0CA-12B5-4B21-B5C1-D2C3CBD2D800Q36510428-8A98773D-0810-49E7-97F1-12C036849F75Q37683934-589D332E-EE0F-4F93-8B05-C35912508F80Q37709053-B63E98CB-9C68-467B-AE30-27E5ADF60325Q38106418-2FDBC037-962F-4DFB-9D68-6569787225EFQ40985645-9B64BA28-EFAD-4E92-95CD-3A5356A8F830Q41520724-749A72E1-2009-44DF-A71E-99AC89DE67E2Q47786373-B8298952-F6A0-430A-BE49-659B6F37FD88Q47811588-9E586B24-790F-457D-9E40-DF59CD840BB8Q48246257-59B32B30-F779-4A89-A965-DBB3EA2A9CA9Q51399722-F2093D89-6B8B-4687-9201-0AF727CCF893Q51564348-AF881C6C-50DA-496A-AC7E-A4FF27F2F1FAQ53308056-19B3ECE3-A131-49D5-8712-B4B9ED3B2013Q57155808-2E554CEC-7F73-41A0-813C-72697C242A2F
P2860
Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh
2008年學術文章
@zh-hant
name
Comprehensive analysis of ocul ...... s the most prevalent OCA type.
@ast
Comprehensive analysis of ocul ...... s the most prevalent OCA type.
@en
type
label
Comprehensive analysis of ocul ...... s the most prevalent OCA type.
@ast
Comprehensive analysis of ocul ...... s the most prevalent OCA type.
@en
prefLabel
Comprehensive analysis of ocul ...... s the most prevalent OCA type.
@ast
Comprehensive analysis of ocul ...... s the most prevalent OCA type.
@en
P2860
P356
P1476
Comprehensive analysis of ocul ...... s the most prevalent OCA type.
@en
P2093
Richard A Spritz
Saunie M Hutton
P2860
P2888
P304
P356
10.1038/JID.2008.109
P407
P577
2008-05-08T00:00:00Z