Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis

Johanna Tommiska, Johanna Känsäkoski, Lasse Skibsbye, Kirsi Vaaralahti, Xiaonan Liu, Emily J. Lodge, Chuyi Tang, Lei Yuan, Rainer Fagerholm, Jorgen K. Kanters, Päivi Lahermo, Mari Kaunisto, Riikka Keski-Filppula, Sanna Vuoristo, Kristiina Pulli, Tapani Ebeling, Leena Valanne, Eeva-Marja Sankila, Sirpa Kivirikko, Mitja LääperiFilippo Casoni, Paolo Giacobini, Franziska Phan-Hug, Tal Buki, Manuel Tena-Sempere, Nelly Pitteloud, Riitta Veijola, Marita Lipsanen-Nyman, Kari Kaunisto, Patrice Mollard, Cynthia L. Andoniadou, Joel A. Hirsch, Markku Varjosalo, Thomas Jespersen, Taneli Raivio

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
Article number1289
JournalNature Communications
Volume8
Number of pages11
ISSN2041-1723
DOIs
Publication statusPublished - 3 Nov 2017
MoE publication typeA1 Journal article-refereed

Fields of Science

  • LONG-QT SYNDROME
  • K+ CHANNEL
  • ATRIAL-FIBRILLATION
  • POTASSIUM CHANNELS
  • STEM-CELLS
  • GENE
  • COMPLEX
  • CALMODULIN
  • VARIANTS
  • SUBUNIT
  • 3111 Biomedicine

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