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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Bioscientifica Ltd
2018
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| Materias: | |
| 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 |