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Disruption of the c‐terminal serine protease domain of Fam111a does not alter calcium homeostasis in mice

Abstract FAM111A gene mutations cause Kenney–Caffey syndrome (KCS) and Osteocraniostenosis (OCS), conditions characterized by short stature, low serum ionized calcium (Ca2+), low parathyroid hormone (PTH), and bony abnormalities. The molecular mechanism mediating this phenotype is unknown. The c‐ter...

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Bibliografische gegevens
Hoofdauteurs: Rebecca Siu Ga Tan, Christy Hui Lin Lee, Wanling Pan, Serene Wohlgemuth, Michael R. Doschak, R. Todd Alexander
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Wiley 2024-05-01
Reeks:Physiological Reports
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Online toegang:https://doi.org/10.14814/phy2.15977
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