Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population
about
Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosisComputational quantification of complex fundus phenotypes in age-related macular degeneration and Stargardt diseaseStem cells as tools for studying the genetics of inherited retinal degenerations.Familial discordance in Stargardt disease.Stargardt macular dystrophy: common ABCA4 mutations in South Africa--establishment of a rapid genetic test and relating risk to patients.Cone and rod loss in Stargardt disease revealed by adaptive optics scanning light ophthalmoscopy.Causes and Prognosis of Visual Acuity Loss at the Time of Initial Presentation in Idiopathic Intracranial Hypertension.Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.Autosomal recessive retinitis pigmentosa due to ABCA4 mutations: clinical, pathologic, and molecular characterization.Translational research in retinology.Hereditary Retinal Dystrophy.Clinical phenotype in ten unrelated Japanese patients with mutations in the EYS gene.Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease.Stargardt disease: towards developing a model to predict phenotype.Predictors of visual acuity and genotype-phenotype correlates in a cohort of patients with Stargardt disease.Visual Outcomes in Japanese Patients with Retinitis Pigmentosa and Usher Syndrome Caused by USH2A Mutations.
P2860
Q28271982-E8B971B0-44A1-4787-BA7B-662A837DE8D3Q35027477-E897EC83-D53D-494A-953F-BFA3C4C1DB28Q35663852-1CF69974-5C5B-438C-A8D1-FDCA9DB6D554Q35737563-CB100FD8-E647-425D-A322-78828FE4C888Q35745250-E9103854-0B6B-4A44-82AE-551DF7D51EFEQ36143380-103C3A04-AD41-49F2-8618-9D4861D17E83Q36420646-E0586D6C-A4EF-4942-87E8-579A5C319AC8Q37346967-191E3AF6-61AC-4E25-8A53-3D168E75FCDAQ37716568-197DBF5E-D696-4105-9207-0C1ABB9DF081Q38905250-EB8E6BE3-30E7-4C48-90BC-2AE2FC9AE66EQ39051446-B48E73A6-5AD2-4328-958B-5C2FDE0DE331Q40093168-091A5AB6-4C86-4DD5-A10D-0FEA4A9E5654Q40180144-2FED5890-2C41-4DDB-999E-DD25CF9DCE5EQ41866189-37B6124E-5871-4FDC-A32C-4C1A2EAF7098Q44850776-01B62BDE-DCEB-4001-A4D4-D3E06D667E0AQ48174554-18F8C16F-57A0-42A1-ADE1-9D6C99F34BE9
P2860
Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population
description
2010 nî lūn-bûn
@nan
2010 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population
@ast
Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population
@en
Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population
@nl
type
label
Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population
@ast
Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population
@en
Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population
@nl
prefLabel
Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population
@ast
Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population
@en
Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population
@nl
P2093
P2860
P50
P356
P1476
Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population
@en
P2093
Andrew C Heggen
Emily I Schindler
Erik L Nylen
Louisa M Affatigato
P2860
P304
P356
10.1093/HMG/DDQ284
P577
2010-07-20T00:00:00Z