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

Autor: 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., Dong Y, 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.; Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, No. 932 Lushannan Road, Changsha, Hunan Province, 410000, China.
Jazyk: angličtina
Zdroj: QJM : monthly journal of the Association of Physicians [QJM] 2022 Apr 20; Vol. 115 (4), pp. 256-258.
DOI: 10.1093/qjmed/hcab317
Databáze: MEDLINE