Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts

Loss of function variants in NOTCH1 cause left ventricular outflow tract obstructive defects (LVOTO). However, the risk conferred by rare and non-coding variants in NOTCH1 for LVOTO remains largely uncharacterized. In a cohort of 49 families affected by hypoplastic left heart syndrome, a severe form...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Genet Epidemiol
Egile Nagusiak: Helle, Emmi, Córdova-Palomera, Aldo, Ojala, Tiina, Saha, Priyanka, Potiny, Praneetha, Gustafsson, Stefan, Ingelsson, Erik, Bamshad, Michael, Nickerson, Deborah, Chong, Jessica X., Ashley, Euan, Priest, James R
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2018
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC6375786/
https://ncbi.nlm.nih.gov/pubmed/30511478
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/gepi.22176
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak