GJB2 (connexin 26) gene mutations in Moroccan patients with autosomal recessive non-syndromic hearing loss and carrier frequency of the common GJB2-35delG mutation.

GJB2 (connexin 26) gene mutations in Moroccan patients with autosomal recessive non-syndromic hearing loss and carrier frequency of the common GJB2-35delG mutation.

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http://www.wikidata.org/entity/Q38857095
EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness.Utilization of amplicon-based targeted sequencing panel for the massively parallel sequencing of sporadic hearing impairment patients from Saudi ArabiaRecessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss PedigreesSpectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic)Statistical study of 35delG mutation of GJB2 gene: a meta-analysis of carrier frequency.The c.242G>A mutation in LRTOMT gene is responsible for a high prevalence of deafness in the Moroccan population.Genetic mutations in non-syndromic deafness patients of Uyghur and Han Chinese ethnicities in Xinjiang, China: a comparative studyGJB2-associated hearing loss: systematic review of worldwide prevalence, genotype, and auditory phenotype.Connexin gene mutations among Ugandan patients with nonsyndromic sensorineural hearing loss.Etiology and associated GJB2 mutations in Mauritanian children with non-syndromic hearing loss.Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing.Genetic and molecular analysis of the CLDN14 gene in Moroccan family with non-syndromic hearing loss.Connexin 26 and 30 mutations in paediatric patients with congenital, non-syndromic hearing loss treated with cochlear implantation in Mediterranean Turkey.Novel compound heterozygous mutations in the GPR98 (USH2C) gene identified by whole exome sequencing in a Moroccan deaf family.
P2860

GJB2 (connexin 26) gene mutations in Moroccan patients with autosomal recessive non-syndromic hearing loss and carrier frequency of the common GJB2-35delG mutation.

Item
http://www.wikidata.org/entity/Q38857095
description
2007 nî lūn-bûn
@nan
2007年の論文
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2007年学术文章
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2007年学术文章
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2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
@zh
2007年學術文章
@zh-hant
name
GJB2 (connexin 26) gene mutati ...... e common GJB2-35delG mutation.
@en
type
label
GJB2 (connexin 26) gene mutati ...... e common GJB2-35delG mutation.
@en
prefLabel
GJB2 (connexin 26) gene mutati ...... e common GJB2-35delG mutation.
@en
P1433
P1476
P2093
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P356
P1433
P1476
GJB2 (connexin 26) gene mutati ...... he common GJB2-35delG mutation
@en
P2093
P304
P31
P356
10.1016/J.IJPORL.2007.04.019
P433
P478
P50
P577
P5875
P698