“Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports”

BACKGROUND: Jervell and Lange-Nielsen syndrome (JLNS) isa recessive model of long QT syndrome which might also be related to possible hearing loss. Although the syndrome has been demonstrated to be originated from homozygous or compound heterozygous mutations in either the KCNQ1 or KCNE1 genes, addi...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Uysal, Fahrettin, Turkgenc, Burcu, Toksoy, Guven, Bostan, Ozlem M., Evke, Elif, Uyguner, Oya, Yakicier, Cengiz, Kayserili, Hulya, Cil, Ergun, Temel, Sehime G.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5644177/
https://ncbi.nlm.nih.gov/pubmed/29037160
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-017-0474-8
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados