Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis.

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Non-Invasive Prenatal Diagnosis in the Management of Preimplantation Genetic Diagnosis Pregnancies.

P2860

Q35667087-6D13257A-B239-4EE2-9556-7A3BD1E5C298

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Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis.

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2008 nî lūn-bûn

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2008年の論文

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2008年論文

@yue

2008年論文

@zh-hant

2008年論文

@zh-hk

2008年論文

@zh-mo

2008年論文

@zh-tw

2008年论文

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2008年论文

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name

Early noninvasive prenatal det ...... ng Leber congenital amaurosis.

@ast

Early noninvasive prenatal det ...... ng Leber congenital amaurosis.

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Item

label

Early noninvasive prenatal det ...... ng Leber congenital amaurosis.

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Early noninvasive prenatal det ...... ng Leber congenital amaurosis.

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prefLabel

Early noninvasive prenatal det ...... ng Leber congenital amaurosis.

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Early noninvasive prenatal det ...... ng Leber congenital amaurosis.

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P1476

Early noninvasive prenatal det ...... ing Leber congenital amaurosis

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P2093

Ana Bustamante-Aragones

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

Carmen Ayuso

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Carmen Ramos

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Cristina Gonzalez-Gonzalez

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Dan Diego-Alvarez

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Elena Vallespin

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Isabel Lorda-Sanchez

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Maria Jose Trujillo-Tiebas

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Marta Rodriguez de Alba

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Rosa Riveiro-Alvarez

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P2860

Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)

Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene

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

Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa

Mutations in the CRB1 gene cause Leber congenital amaurosis

CRB1 mutations may result in retinitis pigmentosa without para-arteriolar RPE preservation

Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis

Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis

Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis

Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene

P304

1388-1394

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scholarly article

P478

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2008-08-04T00:00:00Z

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P698

18682814

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P921

birth defect

P932

2493031

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Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis.

about

P2860

P2860

Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P478

P577

P698

P921

P932

P1433

P1476

P2093

P2860

P304

P31

P478

P577

P698

P921

P932