A novel locus for Leber congenital amaurosis maps to chromosome 6q - Wikidata - wikimedia - TriplyDB

A novel locus for Leber congenital amaurosis maps to chromosome 6q

A novel locus for Leber congenital amaurosis maps to chromosome 6q

http://www.wikidata.org/entity/Q24534329

about

Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis Synaptogenesis and outer segment formation are perturbed in the neural retina of Crx mutant mice A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis Visual improvement in Leber congenital amaurosis and the CRX genotype Molecular analysis of RIM1 in autosomal recessive Retinitis pigmentosa Molecular genetic analysis of two functional candidate genes in the autosomal recessive retinitis pigmentosa, RP25, locus Autosomal dominant retinal degeneration and bone loss in patients with a 12-bp deletion in the CRX gene Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.Spotlight on childhood blindness.Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts Late-onset autosomal dominant macular dystrophy with choroidal neovascularization and nonexudative maculopathy associated with mutation in the RDS gene.Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus.An unusual retinal vascular morphology in connection with a novel AIPL1 mutation in Leber's congenital amaurosis.Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis.Leber congenital amaurosis: disease, genetics and therapy.Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee.Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization.Identification of differentially regulated proteins in a patient with Leber's Congenital Amaurosis--a proteomic study.Screening for CRX gene mutations in Chinese patients with Leber congenital amaurosis and mutational phenotype.Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36.Linkage validation of RP25 Using the 10K genechip array and further refinement of the locus by new linked families.Exclusion of LCA5 locus in a consanguineous Turkish family with macular coloboma-type LCA.Identification of a mutation in CNNM4 by whole exome sequencing in an Amish family and functional link between CNNM4 and IQCB1.The human GCOM1 complex gene interacts with the NMDA receptor and internexin-alpha.

P2860

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P2860

A novel locus for Leber congenital amaurosis maps to chromosome 6q

http://www.wikidata.org/entity/Q24534329

description

2000 nî lūn-bûn

@nan

2000 թուականի Յունուարին հրատարակուած գիտական յօդուած

@hyw

2000 թվականի հունվարին հրատարակված գիտական հոդված

@hy

2000年の論文

@ja

2000年論文

@yue

2000年論文

@zh-hant

2000年論文

@zh-hk

2000年論文

@zh-mo

2000年論文

@zh-tw

2000年论文

@wuu

name

A novel locus for Leber congenital amaurosis maps to chromosome 6q

@ast

A novel locus for Leber congenital amaurosis maps to chromosome 6q

@en

A novel locus for Leber congenital amaurosis maps to chromosome 6q

@nl

type

label

A novel locus for Leber congenital amaurosis maps to chromosome 6q

@ast

A novel locus for Leber congenital amaurosis maps to chromosome 6q

@en

A novel locus for Leber congenital amaurosis maps to chromosome 6q

@nl

prefLabel

A novel locus for Leber congenital amaurosis maps to chromosome 6q

@ast

A novel locus for Leber congenital amaurosis maps to chromosome 6q

@en

A novel locus for Leber congenital amaurosis maps to chromosome 6q

@nl

P1433

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Q24534329-CB6CEBB2-BFC9-4AFF-8CD1-DDCE55462E49

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Q24534329-03448CFA-911D-4CA6-9EC5-CF9CAB8DA058

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P2860

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P31

Q24534329-7DC3940D-D11D-4EC6-932E-25715A3FF1ED

P356

Q24534329-A7494125-50FA-47CA-9168-F3215F33ABC7

P407

Q24534329-7F9F8722-DD74-4053-843A-EBDBB7E68FD8

P433

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P932

Q24534329-065A224D-31BD-43FE-B6D2-59F10295E1E2

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P1433

American Journal of Human Genetics

P1476

A novel locus for Leber congenital amaurosis maps to chromosome 6q

@en

P2093

Baffoe-Bonnie AB

http://www.w3.org/2001/XMLSchema#string

Dharmaraj S

http://www.w3.org/2001/XMLSchema#string

Li Y

http://www.w3.org/2001/XMLSchema#string

Maltby LP

http://www.w3.org/2001/XMLSchema#string

Maumenee IH

http://www.w3.org/2001/XMLSchema#string

Mitchell TN

http://www.w3.org/2001/XMLSchema#string

Robitaille JM

http://www.w3.org/2001/XMLSchema#string

Zhu D

http://www.w3.org/2001/XMLSchema#string

P2860

Cloning of the gamma-aminobutyric acid (GABA) rho 1 cDNA: a GABA receptor subunit highly expressed in the retina

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy

Identification of a putative gamma-aminobutyric acid (GABA) receptor subunit rho2 cDNA and colocalization of the genes encoding rho2 (GABRR2) and rho1 (GABRR1) to human chromosome 6q14-q21 and mouse chromosome 4

Assessment of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene localised to 6q13-q15 in autosomal dominant Stargardt-like disease (ADSTGD), progressive bifocal chorioretinal atrophy (PBCRA), and North Carolina macular dystrophy (MCDR1).

Localization of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q

A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.

Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease

Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

Strategies for multilocus linkage analysis in humans

P304

319-326

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scholarly article

P356

10.1086/302719

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P407

P433

1

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P478

66

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P577

2000-01-01T00:00:00Z

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P5875

12683511

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P698

10631161

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P921

P932

1288337

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