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

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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Bibliographic Details
Main Authors: Anna-Pauliina Iivonen, Johanna Känsäkoski, Atte Karppinen, Leena Kivipelto, Camilla Schalin-Jäntti, Auli Karhu, Taneli Raivio
Format: Article
Language:English
Published: Bioscientifica 2018-04-01
Series:Endocrine Connections
Subjects:
KCNQ1
KCNE2
growth hormone
pituitary adenoma
acromegaly
Online Access:http://www.endocrineconnections.com/content/7/5/645.full

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