Case report: whole-exome sequencing identifies a novel des mutation (p. e434k) in a chinese family with cardiomyopathy and sudden cardiac death

HIGHLIGHTS

• who: Liang-Liang Fan and Yao Deng from the University of Birmingham, United Kingdom have published the paper: Case report: Whole-exome sequencing identifies a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death, in the Journal: (JOURNAL)
• what: Of note, the mutation (c.1300G > A; p E434K) of DES gene identified in this study has not been published, therefore, is considered novel.

SUMMARY

Highly heritable but genetically diversely, hereditary cardiomyopathies represent multiple clinical phenotypes, including dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), restrictive cardiomyopathy (RCM . . .

 



If you want to have access to all the content you need to log in!

Thanks :)

Username or E-mail:

If you don't have an account, you can create one here.