Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects
about
Targets for therapy in sarcomeric cardiomyopathiesTropomyosin 1: Multiple roles in the developing heart and in the formation of congenital heart defectsThe genetic landscape of cardiomyopathy and its role in heart failure.Clinical and molecular investigation of Buschke-Fischer-Brauer in consanguineous Tunisian families.Evaluation of MYBPC3 trans-Splicing and Gene Replacement as Therapeutic Options in Human iPSC-Derived Cardiomyocytes.Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage.Exploring the landscape of pathogenic genetic variation in the ExAC population database: insights of relevance to variant classification.Dilated Cardiomyopathy: Genetic Determinants and Mechanisms.Association of Cardiomyopathy With MYBPC3 D389V and MYBPC3Δ25bpIntronic Deletion in South Asian Descendants.
P2860
Q27027023-4594422C-77B6-40A0-904D-E86FBD158B35Q33717809-FD5E9BFE-9268-4F16-988E-D02C685D99B4Q38343935-D76283FA-F490-4BCF-8DCC-D0DADE270FEBQ38939344-090B0B10-F296-4E74-8170-10E248D9A64FQ40156224-2034F634-78EB-403C-8606-64E420B8E8A5Q45339581-F736C305-56EE-4350-BE32-2DEECD6C3471Q48278534-74D42868-7D25-4D05-8935-DC5B752C4D6FQ50083275-48B7AD07-A35F-4B74-814C-EA4F33D28CC4Q52594002-26407E63-9E45-4F79-8BE8-A4EF3FBF7692
P2860
Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects
description
2015 nî lūn-bûn
@nan
2015 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
Compound heterozygous or homoz ...... ncompaction and septal defects
@ast
Compound heterozygous or homoz ...... ncompaction and septal defects
@en
Compound heterozygous or homoz ...... ncompaction and septal defects
@nl
type
label
Compound heterozygous or homoz ...... ncompaction and septal defects
@ast
Compound heterozygous or homoz ...... ncompaction and septal defects
@en
Compound heterozygous or homoz ...... ncompaction and septal defects
@nl
prefLabel
Compound heterozygous or homoz ...... ncompaction and septal defects
@ast
Compound heterozygous or homoz ...... ncompaction and septal defects
@en
Compound heterozygous or homoz ...... ncompaction and septal defects
@nl
P2093
P2860
P356
P1476
Compound heterozygous or homoz ...... ncompaction and septal defects
@en
P2093
Arthur van den Wijngaard
Dennis Dooijes
Ingrid M Frohn-Mulder
Irenaeus Fm de Coo
Johanna C Herkert
Marja W Wessels
Michelle Michels
Michiel Dalinghaus
Ronald R de Krijger
Yvonne M Hoedemaekers
P2860
P2888
P356
10.1038/EJHG.2014.211
P407
P577
2015-07-01T00:00:00Z