Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness
about
Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafnessEPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness.Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5Genetics of Nonsyndromic Congenital Hearing LossLGI proteins in the nervous system.Characterising the spectrum of autosomal recessive hereditary hearing loss in IranAudiogenic reflex seizures in cats.Novel compound heterozygous TMC1 mutations associated with autosomal recessive hearing loss in a Chinese familyIdentification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese FamilyWhole-exome sequencing identifies a novel genotype-phenotype correlation in the entactin domain of the known deafness gene TECTA.Whole-exome sequencing and its impact in hereditary hearing lossThe CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells.The promise of whole-exome sequencing in medical genetics.Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing studyExploration of molecular genetic etiology for Korean cochlear implantees with severe to profound hearing loss and its implication.Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patientsEPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing lossMutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.Recessive mutations of TMC1 associated with moderate to severe hearing loss.Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing.Next-generation sequencing in understanding complex neurological diseaseThe very large G protein coupled receptor (Vlgr1) in hair cells.The application of next-generation sequencing in the autozygosity mapping of human recessive diseases.Gene expression profiles of the cochlea and vestibular endorgans: localization and function of genes causing deafness.Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing.A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders.Whole-exome sequencing identifies a variant in TMEM132E causing autosomal-recessive nonsyndromic hearing loss DFNB99.
P2860
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P2860
Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness
description
2012 nî lūn-bûn
@nan
2012 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Defect in the gene encoding th ...... auses DFNB98 profound deafness
@ast
Defect in the gene encoding th ...... auses DFNB98 profound deafness
@en
Defect in the gene encoding th ...... auses DFNB98 profound deafness
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Defect in the gene encoding th ...... auses DFNB98 profound deafness
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type
label
Defect in the gene encoding th ...... auses DFNB98 profound deafness
@ast
Defect in the gene encoding th ...... auses DFNB98 profound deafness
@en
Defect in the gene encoding th ...... auses DFNB98 profound deafness
@en-gb
Defect in the gene encoding th ...... auses DFNB98 profound deafness
@nl
prefLabel
Defect in the gene encoding th ...... auses DFNB98 profound deafness
@ast
Defect in the gene encoding th ...... auses DFNB98 profound deafness
@en
Defect in the gene encoding th ...... auses DFNB98 profound deafness
@en-gb
Defect in the gene encoding th ...... auses DFNB98 profound deafness
@nl
P50
P921
P3181
P356
P1476
Defect in the gene encoding th ...... auses DFNB98 profound deafness
@en
P2093
Dominique Weil
P304
P3181
P356
10.1093/HMG/DDS212
P407
P577
2012-09-01T00:00:00Z