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Society for Endocrinology BES 2019

Brighton, United Kingdom
11 Nov 2019 - 13 Nov 2019

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EARLY CAREERS AND PLENARY ORALS

Clinical Endocrinology Trust Best Abstract Basic

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Clinical Endocrinology Trust Best Abstract Clinical
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ea0065ec1.4 | Clinical Endocrinology Trust Best Abstract Basic | SFEBES2019

Mice harbouring a germline heterozygous AP2S1 mutation, Arg15Leu, are a model for familial hypocalciuric hypercalcaemia type 3 (FHH3)

Hannan Fadil , Stokes Victoria , Gorvin Caroline , Stevenson Mark , Hough Tertius , Stewart Michelle , Wells Sara , Teboul Lydia , Thakker Rajesh

Familial hypocalciuric hypercalcaemia (FHH) comprises three genetic variants: FHH types 1 and 2 are due to mutations of the calcium-sensing receptor (CaSR) and G-protein subunit alpha-11, whereas, FHH type 3 (FHH3) is caused by heterozygous mutations affecting the Arg15 residue (Arg15Cys, Arg15His, Arg15Leu) of the adaptor-related protein complex 2-sigma subunit (AP2S1), which regulates CaSR endocytosis. FHH is usually associated with mild hypercalcaemia, normal parathyroid ho...
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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