A novel stop-gain pathogenic variant in the KCNQ1 gene causing long QT syndrome 1.

Kalayinia, Samira; Dalili, Mohammad; Pourirahim, Maryam; Maleki, Majid; Mahdieh, Nejat

Kalayinia, Samira; Dalili, Mohammad; Pourirahim, Maryam; Maleki, Majid; Mahdieh, Nejat.

Afiliación

Kalayinia S; Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
Dalili M; Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
Pourirahim M; Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
Maleki M; Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
Mahdieh N; Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran. nmahdieh@yahoo.com.

Eur J Med Res ; 28(1): 23, 2023 Jan 12.

Article en En | MEDLINE | ID: mdl-36635780

Asunto(s)

Síndrome de Romano-Ward; Niño; Humanos; Canal de Potasio KCNQ1/genética; Irán; Linaje; Familia; Mutación

Palabras clave

Genetic; KCNQ1; Long QT syndrome 1; Variant; Whole-exome sequencing

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Síndrome de Romano-Ward Límite: Child / Humans País/Región como asunto: Asia Idioma: En Revista: Eur J Med Res Asunto de la revista: MEDICINA Año: 2023 Tipo del documento: Article País de afiliación: Irán

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