Open AccessSAT-506 Identification of a Mutation in AP2S1 Causing Familial Hypocalciuric Hypercalcemia Type 3 in a Patient with Unknown Family History of the Disease
Author(s) -
Monica Bhanot,
Andrea H. Ramirez,
Kathryn Dahir
Publication year - 2019
Publication title -
journal of the endocrine society
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.046
H-Index - 20
ISSN - 2472-1972
DOI - 10.1210/js.2019-sat-506
Subject(s) - medicine , hypocalciuria , missense mutation , endocrinology , urinary calcium , calcium metabolism , calcium sensing receptor , gastroenterology , hyperparathyroidism , parathyroid adenoma , parathyroid hormone , genetic testing , mutation , calcium , genetics , chemistry , biology , gene , hypomagnesemia , organic chemistry , magnesium