Work

C.O.6 Complete genetic analysis by whole exome sequencing of a cohort with centronuclear myopathy identifies titin gene mutations

Year: 2012

Type: article

Study design: Observational Study

Source: Neuromuscular Disorders

DOI: 10.1016/j.nmd.2012.06.128

Authors: P.B. Agrawal, K. Schmitz, E.T. DeChene, Ö. Ceyhan, M. Mercier, M. Viola, K. Markianos, A.H. Beggs

Institutions: Boston Children's Hospital, Harvard University

Language: English

Topic: Muscle Physiology and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W2005794472

FWCI: 0.233

Cites:

Cited by: 2

Related to: 10