Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family
about
Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation.Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss.Copy number variants are a common cause of non-syndromic hearing lossTBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.Exploration of molecular genetic etiology for Korean cochlear implantees with severe to profound hearing loss and its implication.SeqSIMLA: a sequence and phenotype simulation tool for complex disease studiesSNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15).Linkage analysis and the study of Mendelian disease in the era of whole exome and genome sequencing.Identification of a novel frameshift mutation in the ILDR1 gene in a UAE family, mutations review and phenotype genotype correlation.Mammalian Actins: Isoform-Specific Functions and Diseases.Mutational spectrum and clinical features of patients with ACTG1 mutations identified by massively parallel DNA sequencing.A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report.
P2860
Q27317239-B78DAD5A-8C4B-4C9D-8EDD-15C030BBE095Q30487513-126AA224-5C5E-4B74-82EB-3A6F8021EBC3Q33796395-A7BEBB97-90D7-4579-87F2-2B857C684DDEQ34415041-E89572FB-C347-4282-A067-E28442D68CF2Q34527976-3A62BE76-59CB-4B34-B67F-D40D269A497CQ34568122-771887D5-454E-4358-8CFF-905D7409755EQ34778042-F72FCB4D-7898-4D24-8DAD-D18F4DA8A499Q35048191-D0E700C1-75DA-4E8D-8265-FC46186D227EQ38229549-CD9F974C-1A38-4B70-990E-3C90951B1B5EQ42146170-339C3D4E-4150-4CA5-89BE-62CEEDE55D20Q49145326-E9024527-7225-4398-86DA-AB0276717B96Q50352845-401DFDDF-776F-4D6A-BA07-2E5101FF40A6Q52605212-625A77C5-A8F9-452F-A20C-D3B81722CBA8
P2860
Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family
description
2013 nî lūn-bûn
@nan
2013 թուականին հրատարակուած գիտական յօդուած
@hyw
2013 թվականին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Multiphasic analysis of whole ...... nsyndromic hearing loss family
@ast
Multiphasic analysis of whole ...... nsyndromic hearing loss family
@en
Multiphasic analysis of whole ...... nsyndromic hearing loss family
@en-gb
Multiphasic analysis of whole ...... nsyndromic hearing loss family
@nl
type
label
Multiphasic analysis of whole ...... nsyndromic hearing loss family
@ast
Multiphasic analysis of whole ...... nsyndromic hearing loss family
@en
Multiphasic analysis of whole ...... nsyndromic hearing loss family
@en-gb
Multiphasic analysis of whole ...... nsyndromic hearing loss family
@nl
prefLabel
Multiphasic analysis of whole ...... nsyndromic hearing loss family
@ast
Multiphasic analysis of whole ...... nsyndromic hearing loss family
@en
Multiphasic analysis of whole ...... nsyndromic hearing loss family
@en-gb
Multiphasic analysis of whole ...... nsyndromic hearing loss family
@nl
P2093
P2860
P356
P1433
P1476
Multiphasic analysis of whole ...... nsyndromic hearing loss family
@en
P2093
Ah Reum Kim
Byung Yoon Choi
Gibeom Park
Hyo-Sang Kim
Jungsoo Gim
Kyu-Hee Han
Seung-Ha Oh
Taesung Park
Woong-Yang Park
P2860
P2888
P356
10.1186/1471-2164-14-191
P407
P577
2013-01-01T00:00:00Z
P5875
P6179
1008535325