Log in to save to my catalogue

Truncations of Titin Causing Dilated Cardiomyopathy

Truncations of Titin Causing Dilated Cardiomyopathy

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3660031

Truncations of Titin Causing Dilated Cardiomyopathy

Publication information

Publisher

Waltham, MA: Massachusetts Medical Society

More information

Scope and Contents

Contents

Titin, an important protein in the sarcomere, is the largest human protein. This study identified mutations in the titin gene that result in a truncated protein as important causes of dilated cardiomyopathy.
Gene mutation is an important cause of cardiomyopathy. Mutations in eight sarcomere-protein genes cause hypertrophic cardiomyopathy, detect...

Alternative Titles

Full title

Truncations of Titin Causing Dilated Cardiomyopathy

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3660031

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3660031

Other Identifiers

ISSN

0028-4793,1533-4406

E-ISSN

1533-4406

DOI

10.1056/NEJMoa1110186

How to access this item