Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome

OBJECTIVE(S): Jervell and Lange–Nielsen syndrome is an autosomal recessive disorder caused by mutations in KCNQ1 or KCNE1 genes. The disease is characterized by sensorineural hearing loss and long QT syndrome. MATERIALS AND METHODS: Here we present a 3.5-year-old female patient, an offspring of cons...

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Detalles Bibliográficos
Autores principales: Amirian, Azam, Dalili, Seyed Mohammad, Zafari, Zahra, Saber, Siamak, Karimipoor, Morteza, Akbari, Vahid, Fazelifar, Amir Farjam, Zeinali, Sirous
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Mashhad University of Medical Sciences 2018
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5776430/
https://www.ncbi.nlm.nih.gov/pubmed/29372044
http://dx.doi.org/10.22038/IJBMS.2017.23207.5908

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