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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Iran J Basic Med Sci
Päätekijät: Amirian, Azam, Dalili, Seyed Mohammad, Zafari, Zahra, Saber, Siamak, Karimipoor, Morteza, Akbari, Vahid, Fazelifar, Amir Farjam, Zeinali, Sirous
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Mashhad University of Medical Sciences 2018
Aiheet:
Short Communication
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC5776430/
https://ncbi.nlm.nih.gov/pubmed/29372044
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.22038/IJBMS.2017.23207.5908
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