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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Detalles Bibliográficos
Autores principales: Iivonen, Anna-Pauliina, Känsäkoski, Johanna, Karppinen, Atte, Kivipelto, Leena, Schalin-Jäntti, Camilla, Karhu, Auli, Raivio, Taneli
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2018
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5931228/
https://www.ncbi.nlm.nih.gov/pubmed/29703730
http://dx.doi.org/10.1530/EC-18-0123

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5931228/
https://www.ncbi.nlm.nih.gov/pubmed/29703730
http://dx.doi.org/10.1530/EC-18-0123

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