Exome sequencing identified mutations in CASK and MYBPC3 as the cause of a complex dilated cardiomyopathy phenotype.
暂无分享,去创建一个
[1] R. Pfundt,et al. Phenotypic and molecular insights into CASK-related disorders in males , 2015, Orphanet Journal of Rare Diseases.
[2] D. Behar,et al. Mutations in TAX1BP3 Cause Dilated Cardiomyopathy with Septo‐Optic Dysplasia , 2015, Human mutation.
[3] E. McNally,et al. Genetic mutations and mechanisms in dilated cardiomyopathy. , 2013, The Journal of clinical investigation.
[4] Steven B Marston,et al. How do MYBPC3 mutations cause hypertrophic cardiomyopathy? , 2012, Journal of Muscle Research and Cell Motility.
[5] Pablo Cingolani,et al. © 2012 Landes Bioscience. Do not distribute. , 2022 .
[6] E. Bertini,et al. Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient , 2012, Orphanet Journal of Rare Diseases.
[7] 杜昕,et al. Inherited cardiomyopathies , 2012 .
[8] H. Katus,et al. Mechanisms of disease: hypertrophic cardiomyopathy , 2012, Nature Reviews Cardiology.
[9] Soma Das,et al. Phenotypic spectrum associated with CASK loss-of-function mutations , 2011, Journal of Medical Genetics.
[10] M. Shaw,et al. CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes , 2010, European Journal of Human Genetics.
[11] Gonçalo R. Abecasis,et al. The Sequence Alignment/Map format and SAMtools , 2009, Bioinform..
[12] G. Lanfranchi,et al. Hypertrophic cardiomyopathy: two homozygous cases with "typical" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy. , 2003, Biochemical and biophysical research communications.
[13] H Niimura,et al. Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. , 1998, The New England journal of medicine.
[14] H. Watkins,et al. Inherited cardiomyopathies. , 2011, The New England journal of medicine.