Identification of a novel GATA binding protein 5 variant (c.830C>T/p.P277L) damaging the nuclear translocation and causing tetralogy of Fallot.

Jin, J-Y; Wu, L-P; Dong, Y; Pi, H-C; Wu, H-F; Xiang, R

Jin, J-Y; Wu, L-P; Dong, Y; Pi, H-C; Wu, H-F; Xiang, R.

Afiliação

Jin JY; School of Life Sciences, Central South University, No. 932 Lushannan Road, Changsha, Hunan Province, 410000, China.
Wu LP; Department of Medical Genetics and Prenatal Diagnosis, Shenzhen Longgang District Maternity and Child Healthcare Hospital, No. 6 Ailong Road, Shenzhen, Guangdong Province, 518100, China.
Pi HC; Department of Medical Genetics and Prenatal Diagnosis, Shenzhen Longgang District Maternity and Child Healthcare Hospital, No. 6 Ailong Road, Shenzhen, Guangdong Province, 518100, China.
Wu HF; Obstetric Inpatient Department, Shenzhen Longgang District Maternity and Child Healthcare Hospital, No. 6 Ailong Road, Shenzhen, Guangdong Province, 518100, China.
Xiang R; Hunan Key Laboratory of Animal Models for Human Diseases, School of Life Sciences, Central South University, No. 932 Lushannan Road, Changsha, Hunan Province, 410000, China.

QJM ; 115(4): 256-258, 2022 04 20.

Article em En | MEDLINE | ID: mdl-34904678

Assuntos

Fator de Transcrição GATA5; Tetralogia de Fallot; Humanos; Tetralogia de Fallot/diagnóstico por imagem; Tetralogia de Fallot/genética; Tetralogia de Fallot/cirurgia

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tetralogia de Fallot / Fator de Transcrição GATA5 Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: QJM Assunto da revista: MEDICINA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: China

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