“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...

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Dades bibliogràfiques
Publicat a:BMC Med Genet
Autors principals: Uysal, Fahrettin, Turkgenc, Burcu, Toksoy, Guven, Bostan, Ozlem M., Evke, Elif, Uyguner, Oya, Yakicier, Cengiz, Kayserili, Hulya, Cil, Ergun, Temel, Sehime G.
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2017
Matèries:
Case Report
Accés en línia: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
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