Open AccessAutosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism
Author(s) -
Luigia Cinque,
Angelo Sparaneo,
Laura Penta,
Amedea Mencarelli,
Daniela Rogaia,
Susanna Esposito,
Federico Pio Fabrizio,
Filomena Baorda,
Alberto Verrotti,
Alberto Falorni,
Gabriela Stangoni,
Geoffrey N. Hendy,
Vito Guarnieri,
Paolo Prontera
Publication year - 2017
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2017-00250
Subject(s) - missense mutation , hypoparathyroidism , mutant , endocrinology , mutation , exon , biology , gene , parathyroid hormone , medicine , calcium sensing receptor , genetics , calcium
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