A Pathogenic Homozygous Mutation in The Pleckstrin Homology Domain of RASA1 Is Responsible for Familial Tricuspid Atresia in An Iranian Consanguineous Family.

Nozari, Ahoura; Aghaei-Moghadam, Ehsan; Zeinaloo, Aliakbar; Alavi, Afagh; Ghasemi Firouzabdi, Saghar; Minaee, Shohre; Eskandari Hesari, Marzieh; Behjati, Farkhondeh

Nozari, Ahoura; Aghaei-Moghadam, Ehsan; Zeinaloo, Aliakbar; Alavi, Afagh; Ghasemi Firouzabdi, Saghar; Minaee, Shohre; Eskandari Hesari, Marzieh; Behjati, Farkhondeh.

Afiliação

Nozari A; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Aghaei-Moghadam E; Department of Pediatrics Cardiology, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Zeinaloo A; Department of Pediatrics Cardiology, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Alavi A; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Ghasemi Firouzabdi S; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Minaee S; Department of Pediatrics Cardiology, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Eskandari Hesari M; Department of Pediatrics Cardiology, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Behjati F; Department of Pediatrics Cardiology, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran. Electronic Address: f_behjati@uswr.ac.ir.

Cell J ; 21(1): 70-77, 2019 Apr.

Article em En | MEDLINE | ID: mdl-30507091

Palavras-chave

Pleckstrin Homology Domain; RASA1; Tricuspid Atresia; Whole Exome Sequencing

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Observational_studies / Prognostic_studies Idioma: En Revista: Cell J Ano de publicação: 2019 Tipo de documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google