ILDR1: Novel mutation and a rare cause of congenital deafness in the Saudi Arabian population.
about
ILDR1 null mice, a model of human deafness DFNB42, show structural aberrations of tricellular tight junctions and degeneration of auditory hair cells.Discovering the Unexpected with the Utilization of NGS in Diagnostics of Non-syndromic Hearing Loss Disorders: The Family Case of ILDR1-Dependent Hearing Loss Disorder.Downsloping high-frequency hearing loss due to inner ear tricellular tight junction disruption by a novel ILDR1 mutation in the Ig-like domainTwo novel mutations in ILDR1 gene cause autosomal recessive nonsyndromic hearing loss in consanguineous Iranian families.Diverse pattern of gap junction beta-2 and gap junction beta-4 genes mutations and lack of contribution of DFNB21, DFNB24, DFNB29, and DFNB42 loci in autosomal recessive nonsyndromic hearing loss patients in Hormozgan, Iran.Identification of a novel frameshift mutation in the ILDR1 gene in a UAE family, mutations review and phenotype genotype correlation.A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families.
P2860
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P2860
ILDR1: Novel mutation and a rare cause of congenital deafness in the Saudi Arabian population.
description
2014 nî lūn-bûn
@nan
2014 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
ILDR1: Novel mutation and a ra ...... the Saudi Arabian population.
@ast
ILDR1: Novel mutation and a ra ...... the Saudi Arabian population.
@en
type
label
ILDR1: Novel mutation and a ra ...... the Saudi Arabian population.
@ast
ILDR1: Novel mutation and a ra ...... the Saudi Arabian population.
@en
prefLabel
ILDR1: Novel mutation and a ra ...... the Saudi Arabian population.
@ast
ILDR1: Novel mutation and a ra ...... the Saudi Arabian population.
@en
P2093
P1476
ILDR1: Novel mutation and a ra ...... the Saudi Arabian population.
@en
P2093
Ahmed M Khater
Amal Berhan
Asma I Tahir
Faiqa Imtiaz
Khalid Taibah
Khushnooda Ramzan
Mohammed Al-Owain
Selwa A F Al-Hazzaa
P304
P356
10.1016/J.EJMG.2014.04.004
P577
2014-04-21T00:00:00Z