X-Linked Myotubular and Centronuclear Myopathies
Christopher R. Pierson(Nationwide Children's Hospital), Alan H. Beggs(Broad Institute), Behzad Moghadaszadeh(Boston Children's Hospital), Kinga K. Tomczak(Boston Children's Hospital), Pankaj B. Agrawal(Post Graduate Institute of Medical Education and Research)
Cited by 111
Related Papers
Genotype-Phenotype Correlation in the Long-QT Syndrome
|Circulation|2001|1.8k
Mutations in ACTN4, encoding α-actinin-4, cause familial focal segmental glomerulosclerosis
|Nature Genetics|2000|1.3k
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion.
|PubMed|1989|961
ACTN3 Genotype Is Associated with Human Elite Athletic Performance
|The American Journal of Human Genetics|2003|917
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
|Science Translational Medicine|2017|809