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

Fadil M. Hannan, Sarah A. Howles, Angela Rogers, Treena Cranston, Caroline M. Gorvin, Valerie N. Babinsky, Anita A. Reed, Clare E. Thakker, Detlef Bockenhauer, Rosalind S. Brown, John M. Connell, Jacqueline Cook, Ken Darzy, Sarah Ehtisham, Una Graham, Tony Hulse, Steven J. Hunter, Louise Izatt, Dhavendra Kumar, Malachi J. McKennaJohn A. McKnight, Patrick J. Morrison, M. Zulf Mughal, Domhnall O'Halloran, Simon H. Pearce, Mary E. Porteous, Mushtaqur Rahman, Tristan Richardson, Robert Robinson, Isabelle Scheers, Haroon Siddique, William G. van't Hoff, Timothy Wang, Michael P. Whyte, M. Andrew Nesbit, Rajesh V. Thakker (Lead / Corresponding author)

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    Medicine and Dentistry

    Biochemistry, Genetics and Molecular Biology