“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...

Descripción completa

Detalles Bibliográficos
Autores principales: Uysal, Fahrettin, Turkgenc, Burcu, Toksoy, Guven, Bostan, Ozlem M., Evke, Elif, Uyguner, Oya, Yakicier, Cengiz, Kayserili, Hulya, Cil, Ergun, Temel, Sehime G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5644177/
https://www.ncbi.nlm.nih.gov/pubmed/29037160
http://dx.doi.org/10.1186/s12881-017-0474-8

Ejemplares similares

Ejemplares similares