Familial Hypocalciuric Hypercalcaemia Type 3 (FHH3) Identified in a Family in Northern Ireland Leading to Identification of a Causative Mutation in the Adaptor Protein 2 Sigma 1 (A... by Graham, U, Nesbit, M, Hannan, F, Howles, SA, Thakker, R, Hunter, S

Identification of a second kindred with familial hypocalciuric hypercalcemia type 3 (FHH3) narrows localization to a <3.5 megabase pair region on chromosome 19q13.3. by Nesbit, M, Hannan, F, Graham, U, Whyte, M, Morrison, P, Hunter, S, Thakker, R

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3 by Nesbit, M, Hannan, F, Howles, SA, Reed, A, Cranston, T, Thakker, C, Gregory, L, Rimmer, A, Rust, N, Graham, U, Morrison, P, Hunter, S, Whyte, M, Mcvean, G, Buck, D, Thakker, R

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3. by Nesbit, M, Hannan, F, Howles, SA, Reed, A, Cranston, T, Thakker, C, Gregory, L, Rimmer, A, Rust, N, Graham, U, Morrison, P, Hunter, S, Whyte, M, McVean, G, Buck, D, Thakker, R

Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative... by Hannan, F, Howles, S, Rogers, A, Cranston, T, Gorvin, C, Babinsky, V, Reed, A, Thakker, C, Bockenhauer, D, Brown, R, Connell, J, Cook, J, Darzy, K, Ehtisham, S, Graham, U, Hulse, T, Hunter, S, Izatt, L, Kumar, D, McKenna, M, McKnight, J, Morrison, P, Mughal, M, O'Halloran, D, Pearce, S, Porteous, M, Rahman, M, Richardson, T, Robinson, R, Scheers, I, Siddique, H, Van't Hoff, W, Wang, T, Whyte, M, Nesbit, M, Thakker, R