Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families.

about

Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families.

Item

http://www.wikidata.org/entity/Q55322270

description

2018 nî lūn-bûn

@nan

2018年の論文

@ja

2018年学术文章

@wuu

2018年学术文章

@zh

2018年学术文章

@zh-cn

2018年学术文章

@zh-hans

2018年学术文章

@zh-my

2018年学术文章

@zh-sg

2018年學術文章

@yue

2018年學術文章

@zh-hant

name

Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.

@nl

Unravelling the pathogenic rol ...... ariant among Spanish families.

@en

type

Item

label

Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.

@nl

Unravelling the pathogenic rol ...... ariant among Spanish families.

@en

prefLabel

Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.

@nl

Unravelling the pathogenic rol ...... ariant among Spanish families.

@en

P1476

Unravelling the pathogenic rol ...... ariant among Spanish families.

@en

P2093

Almudena Avila-Fernández

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

Blanca García-Sandoval

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

Elena Aller

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

Fiona Blanco-Kelly

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

Gema García-García

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

Inmaculada Martín-Mérida

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

José M Millán

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

Lilián Galbis-Martínez

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

Raquel Pérez-Carro

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

P2860

Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype

PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23

A domain-specific usherin/collagen IV interaction may be required for stable integration into the basement membrane superstructure

Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II

Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa

Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss

Cone-rod dystrophy and a frameshift mutation in the PROM1 gene

Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells

Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation

Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium

P304

e0199048

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

P31

scholarly article

P356

10.1371/JOURNAL.PONE.0199048

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

P407

English

P433

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

P478

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

P50

Pablo Minguez

Carmen Ayuso

Ignacio Mahíllo-Fernández

Marta Cortón

P577

2018-06-18T00:00:00Z

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

P698

29912909

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

P932

6005481

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