Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects. (Human molecular genetics, 2015)

(untitled) - Hannan, F; Howles, S; Rogers, A; Cranston, T; Gorvin, C; Babinsky, V; Reed, A; Thakker, C; Bockenhauer, D; Brown, R; Connell, J; Cook, J; et al.