Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins
about
Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%Myosin VIIA is specifically associated with calmodulin and microtubule-associated protein-2B (MAP-2B)Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndromeUtilization of amplicon-based targeted sequencing panel for the massively parallel sequencing of sporadic hearing impairment patients from Saudi ArabiaDiversity of the Genes Implicated in Algerian Patients Affected by Usher SyndromeDeafness and retinal degeneration in a novel USH1C knock-in mouse modelAt the speed of sound: gene discovery in the auditory systemAT-AC pre-mRNA splicing mechanisms and conservation of minor introns in voltage-gated ion channel genes.Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencingGenetic analysis through OtoSeq of Pakistani families segregating prelingual hearing lossUnconventional myosins and the genetics of hearing loss.Recent advances in the molecular basis of inherited photoreceptor degeneration.Highly skewed X-chromosome inactivation is associated with idiopathic recurrent spontaneous abortionGene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c.Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells.Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.Transcriptome networks in the mouse retina: An exon level BXD RI databaseMYO7A mutation screening in Usher syndrome type I patients from diverse origins.Development of a genotyping microarray for Usher syndromeGenetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosisCCT2 Mutations Evoke Leber Congenital Amaurosis due to Chaperone Complex Instability.Experience of targeted Usher exome sequencing as a clinical test.Genetics and pathological mechanisms of Usher syndrome.Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.Unconventional myosins, the basis for deafness in mouse and man.Identification of a novel MYO7A mutation in Usher syndrome type 1.Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients.Functional analysis of splicing mutations in MYO7A and USH2A genes.Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.Genetics and genomic medicine in Tunisia.Severe retinal degeneration at an early age in Usher syndrome type 1B associated with homozygous splice site mutations in MYO7A gene.
P2860
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P2860
Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins
description
1997 nî lūn-bûn
@nan
1997 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Mutation profile of all 49 exo ...... families from diverse origins
@ast
Mutation profile of all 49 exo ...... families from diverse origins
@en
Mutation profile of all 49 exo ...... families from diverse origins
@nl
type
label
Mutation profile of all 49 exo ...... families from diverse origins
@ast
Mutation profile of all 49 exo ...... families from diverse origins
@en
Mutation profile of all 49 exo ...... families from diverse origins
@nl
prefLabel
Mutation profile of all 49 exo ...... families from diverse origins
@ast
Mutation profile of all 49 exo ...... families from diverse origins
@en
Mutation profile of all 49 exo ...... families from diverse origins
@nl
P2093
P2860
P3181
P356
P1476
Mutation profile of all 49 exo ...... families from diverse origins
@en
P2093
B Bonne-Tamir
H Kalinski
M Korostishevsky
P2860
P304
P3181
P356
10.1086/514899
P407
P577
1997-10-01T00:00:00Z