Whole-genome DNA sequencing: The key to detecting a sarcomeric mutation in a ‘false genotype-negative’ family with hypertrophic cardiomyopathy

Whole-genome DNA sequencing: The key to detecting a sarcomeric mutation in a ‘false genotype-negative’ family with hypertrophic cardiomyopathy

Show other versions (1)

The authors report the clinical and genetic investigation of a family with hypertrophic cardiomyopathy (HCM). The individuals described are three affected first-degree relatives (father, daughter and son), one affected niece and unaffected nephew and niece. Those affected all share a very similar ph...

Full description

Bibliographic Details
Main Authors: Ana Catarina Gomes, Pedro Santos Barbosa, Ana Coutinho, Inês Cruz, Maria Carmo-Fonseca, Luís Rocha Lopes
Format: Article
Language:English
Published: Elsevier 2020-04-01
Series:Revista Portuguesa de Cardiologia
Subjects:
Miocardiopatia hipertrófica
Estudo genético
Whole-genome sequencing
MYBPC3
Variante intrónica
Online Access:http://www.sciencedirect.com/science/article/pii/S0870255120301530

Internet

http://www.sciencedirect.com/science/article/pii/S0870255120301530

Similar Items