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Journal article
Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects
Hannan, Fadil M
Howles, Sarah A
Rogers, Angela
Cranston, Treena
Gorvin, Caroline M
Babinsky, Valerie N
Reed, Anita A
Thakker, Clare E
Bockenhauer, Detlef
Brown, Rosalind S
Connell, John M
Cook, Jacqueline
Darzy, Ken
Ehtisham, Sarah
Graham, Una
Hulse, Tony
Hunter, Steven J
Izatt, Louise
Kumar, Dhavendra
McKenna, Malachi J
McKnight, John A
Morrison, Patrick J
Mughal, M Zulf
O'Halloran, Domhnall
Pearce, Simon H
Porteous, Mary E
Rahman, Mushtaqur
Richardson, Tristan
Robinson, Robert
Scheers, Isabelle
[UCL]
Siddique, Haroon
Van't Hoff, William G
Wang, Timothy
Whyte, Michael P
Nesbit, M Andrew
Thakker, Rajesh V
(2015)
Human Molecular Genetics — Vol. 24, no.18, p. 5079-5092 (2015)