Novel mutations of CRB1 in Chinese families presenting with retinal dystrophies.
about
Retinal dystrophies, genomic applications in diagnosis and prospects for therapyDependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.Use of high-throughput targeted exome sequencing in genetic diagnosis of Chinese family with congenital cataract.Novel mutations in CRB1 gene identified in a chinese pedigree with retinitis pigmentosa by targeted capture and next generation sequencing.Concurrent retinitis pigmentosa and pigmented paravenous retinochoroidal atrophy phenotypes in the same patient.Structures of the human Pals1 PDZ domain with and without ligand suggest gated access of Crb to the PDZ peptide-binding groove
P2860
Novel mutations of CRB1 in Chinese families presenting with retinal dystrophies.
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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 26 March 2014
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vedecký článok
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vetenskaplig artikel
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name
Novel mutations of CRB1 in Chinese families presenting with retinal dystrophies.
@en
Novel mutations of CRB1 in Chinese families presenting with retinal dystrophies.
@nl
type
label
Novel mutations of CRB1 in Chinese families presenting with retinal dystrophies.
@en
Novel mutations of CRB1 in Chinese families presenting with retinal dystrophies.
@nl
prefLabel
Novel mutations of CRB1 in Chinese families presenting with retinal dystrophies.
@en
Novel mutations of CRB1 in Chinese families presenting with retinal dystrophies.
@nl
P2093
P2860
P1433
P1476
Novel mutations of CRB1 in Chinese families presenting with retinal dystrophies.
@en
P2093
Liping Yang
Ningning Chen
Xiaobei Yin
Zhizhong Ma
P2860
P304
P577
2014-03-26T00:00:00Z