Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2)

Sian E Piret, Caroline M Gorvin, Alistair T Pagnamenta, Sarah A Howles, Treena Cranston, Nigel Rust, M. Andrew Nesbit, Ben Glaser, Jenny C Taylor, Andreas E Buchs, Fadil M Hannan, Rajesh V Thakker

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Biochemistry, Genetics and Molecular Biology