Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.
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%Early diagnosis of Usher syndrome in childrenUSH1A: chronicle of a slow deathComprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohortThe absence of diabetic retinopathy in patients with retinitis pigmentosa: implications for pathophysiology and possible treatmentAt the speed of sound: gene discovery in the auditory systemGenetic analysis through OtoSeq of Pakistani families segregating prelingual hearing lossUnconventional myosins and the genetics of hearing loss.Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D.Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome.Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.Targeted next generation sequencing for molecular diagnosis of Usher syndrome.Genetic analysis demonstrates a direct link between rho signaling and nonmuscle myosin function during Drosophila morphogenesis.Non-syndromic autosomal-dominant deafness.Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss.MYO7A mutation screening in Usher syndrome type I patients from diverse origins.Usher syndrome in Denmark: mutation spectrum and some clinical observationsExperience of targeted Usher exome sequencing as a clinical test.Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.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.Functional analysis of splicing mutations in MYO7A and USH2A genes.
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Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.
description
1999 nî lūn-bûn
@nan
1999年の論文
@ja
1999年学术文章
@wuu
1999年学术文章
@zh
1999年学术文章
@zh-cn
1999年学术文章
@zh-hans
1999年学术文章
@zh-my
1999年学术文章
@zh-sg
1999年學術文章
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1999年學術文章
@zh-hant
name
Twelve novel myosin VIIA mutat ...... tion of genetic heterogeneity.
@en
Twelve novel myosin VIIA mutat ...... tion of genetic heterogeneity.
@nl
type
label
Twelve novel myosin VIIA mutat ...... tion of genetic heterogeneity.
@en
Twelve novel myosin VIIA mutat ...... tion of genetic heterogeneity.
@nl
prefLabel
Twelve novel myosin VIIA mutat ...... tion of genetic heterogeneity.
@en
Twelve novel myosin VIIA mutat ...... tion of genetic heterogeneity.
@nl
P2093
P2860
P1433
P1476
Twelve novel myosin VIIA mutat ...... tion of genetic heterogeneity.
@en
P2093
Apfelstedt-Sylla E
Grundmann K
Rosenberg T
P2860
P304
P356
10.1002/(SICI)1098-1004(1999)13:2<133::AID-HUMU5>3.0.CO;2-U
P577
1999-01-01T00:00:00Z