Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus.
about
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlationsIdentification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataractsLeber congenital amaurosis: a genetic paradigm.Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis.Molecular genetics of infantile-onset retinal dystrophies.Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee.Available Evidence on Leber Congenital Amaurosis and Gene Therapy.Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization.A mutation in IFT43 causes non-syndromic recessive retinal degeneration.Exclusion of LCA5 locus in a consanguineous Turkish family with macular coloboma-type LCA.Retinal Structure in Cobalamin C Disease: Mechanistic and Therapeutic Implications.
P2860
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P2860
Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus.
description
2003 nî lūn-bûn
@nan
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
2003年论文
@zh
2003年论文
@zh-cn
name
Progression of phenotype in Le ...... a mutation at the LCA5 locus.
@ast
Progression of phenotype in Le ...... a mutation at the LCA5 locus.
@en
type
label
Progression of phenotype in Le ...... a mutation at the LCA5 locus.
@ast
Progression of phenotype in Le ...... a mutation at the LCA5 locus.
@en
prefLabel
Progression of phenotype in Le ...... a mutation at the LCA5 locus.
@ast
Progression of phenotype in Le ...... a mutation at the LCA5 locus.
@en
P2093
P2860
P356
P1476
Progression of phenotype in Le ...... a mutation at the LCA5 locus.
@en
P2093
C F Inglehearn
M A McKibbin
M D Mohamed
N C Topping
P2860
P304
P356
10.1136/BJO.87.4.473
P407
P577
2003-04-01T00:00:00Z