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Gorvin, Caroline M, Stokes, Victoria J, Boon, Hannah, Cranston, Treena, Gluck, Anna K, Bahl, Shailini, Homfray, Tessa, Aung, Theingi, Shine, Brian, Lines, Kate E et al (show 2 more authors)
(2020)
Activating Mutations of the G-protein Subunit a 11 Interdomain Interface Cause Autosomal Dominant Hypocalcemia Type 2.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 105 (3).
pp. 952-963.
Gorvin, Caroline M, Frost, Morten, Malinauskas, Tomas, Cranston, Treena, Boon, Hannah, Siebold, Christian, Jones, E Yvonne, Hannan, Fadil M ORCID: 0000-0002-2975-5170 and Thakker, Rajesh V
(2018)
Calcium-sensing receptor residues with loss- and gain-of-function mutations are located in regions of conformational change and cause signalling bias.
HUMAN MOLECULAR GENETICS, 27 (21).
pp. 3720-3733.
Dharmaraj, Poonam, Gorvin, Caroline M, Soni, Astha, Nelhans, Nick D, Olesen, Mie K ORCID: 0000-0003-0338-5690, Boon, Hannah, Cranston, Treena, Thakker, Rajesh V and Hannan, Fadil M ORCID: 0000-0002-2975-5170
(2020)
Neonatal Hypocalcemic Seizures in Offspring of a Mother With Familial Hypocalciuric Hypercalcemia Type 1 (FHH1).
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 105 (5).
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