High frequency of the IVS2-2A>G DNA sequence variation in SLC26A5, encoding the cochlear motor protein prestin, precludes its involvement in hereditary hearing loss.
about
Autosomal recessive nonsyndromic deafness genes: a reviewThe hearing gene Prestin reunites echolocating bats.DNA sequence analysis of SLC26A5, encoding prestin, in a patient-control cohort: identification of fourteen novel DNA sequence variationsHigh-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays.Genotyping with a 198 mutation arrayed primer extension array for hereditary hearing loss: assessment of its diagnostic value for medical practice.Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approachInherited hearing loss: molecular genetics and diagnostic testing.DNA sequence analysis and genotype-phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathy.Functional prestin transduction of immature outer hair cells from normal and prestin-null mice.The R130S mutation significantly affects the function of prestin, the outer hair cell motor protein.Abnormal mRNA splicing but normal auditory brainstem response (ABR) in mice with the prestin (SLC26A5) IVS2-2A>G mutation.The auditory phenotype of children harboring mutations in the prestin gene.Prevalence of DFNB1 mutations among cochlear implant users in Slovakia and its clinical implications.
P2860
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P2860
High frequency of the IVS2-2A>G DNA sequence variation in SLC26A5, encoding the cochlear motor protein prestin, precludes its involvement in hereditary hearing loss.
description
2005 nî lūn-bûn
@nan
2005 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
High frequency of the IVS2-2A> ...... ent in hereditary hearing loss
@nl
High frequency of the IVS2-2A> ...... nt in hereditary hearing loss.
@ast
High frequency of the IVS2-2A> ...... nt in hereditary hearing loss.
@en
type
label
High frequency of the IVS2-2A> ...... ent in hereditary hearing loss
@nl
High frequency of the IVS2-2A> ...... nt in hereditary hearing loss.
@ast
High frequency of the IVS2-2A> ...... nt in hereditary hearing loss.
@en
prefLabel
High frequency of the IVS2-2A> ...... ent in hereditary hearing loss
@nl
High frequency of the IVS2-2A> ...... nt in hereditary hearing loss.
@ast
High frequency of the IVS2-2A> ...... nt in hereditary hearing loss.
@en
P2093
P2860
P356
P1433
P1476
High frequency of the IVS2-2A> ...... nt in hereditary hearing loss.
@en
P2093
Anping Xia
Fred A Pereira
Hsiao-Yuan Tang
John S Oghalai
Raye L Alford
P2860
P2888
P356
10.1186/1471-2350-6-30
P407
P577
2005-08-08T00:00:00Z