Screening for germline KCNQ1 and KCNE2 mutations in a set of somatotropinoma patients

OBJECTIVE: Recently, mutations in KCNQ1, a potassium channel gene usually linked to long QT syndrome, were reported to cause maternally inherited gingival fibromatosis and growth hormone deficiency (GHD). Expression of the mutated KCNQ1 with the auxiliary potassium channel subunit KCNE2 was shown to...

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Detalhes bibliográficos
Publicado no:Endocr Connect
Main Authors: Iivonen, Anna-Pauliina, Känsäkoski, Johanna, Karppinen, Atte, Kivipelto, Leena, Schalin-Jäntti, Camilla, Karhu, Auli, Raivio, Taneli
Formato: Artigo
Idioma:Inglês
Publicado em: Bioscientifica Ltd 2018
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5931228/
https://ncbi.nlm.nih.gov/pubmed/29703730
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EC-18-0123
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