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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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Dades bibliogràfiques
Publicat a:Endocr Connect
Autors principals: Iivonen, Anna-Pauliina, Känsäkoski, Johanna, Karppinen, Atte, Kivipelto, Leena, Schalin-Jäntti, Camilla, Karhu, Auli, Raivio, Taneli
Format: Artigo
Idioma:Inglês
Publicat: Bioscientifica Ltd 2018
Matèries:
Accés en línia: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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