Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India
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CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content.Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.Mutational screening of LCA genes emphasizing RPE65 in South Indian cohort of patients.Review and update on the molecular basis of Leber congenital amaurosisExome capture sequencing identifies a novel mutation in BBS4Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian FamiliesComplementation test of Rpe65 knockout and tvrm148.The Rpe65 rd12 allele exerts a semidominant negative effect on vision in miceNovel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis.Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes
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Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 04 September 2009
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Mutations that are a common ca ...... ica are rare in southern India
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Mutations that are a common ca ...... ca are rare in southern India.
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type
label
Mutations that are a common ca ...... ica are rare in southern India
@en
Mutations that are a common ca ...... ca are rare in southern India.
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prefLabel
Mutations that are a common ca ...... ica are rare in southern India
@en
Mutations that are a common ca ...... ca are rare in southern India.
@nl
P2093
P2860
P1433
P1476
Mutations that are a common ca ...... ica are rare in southern India
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P2093
Edwin M Stone
John H Fingert
P Vijayalakshmi
Periasamy Sundaresan
Stewart Thompson
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P304
P50
P577
2009-09-04T00:00:00Z