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

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author: Malachi J McKenna  Una Graham  Treena Cranston  Clare E Thakker  Fadil M. Hannan  Mary E Porteous  Tristan Richardson  Valerie N Babinsky  Rajesh Thakker  Michael P. Whyte  Sarah A. Howles  Caroline M Gorvin  Simon Pearce 

Publication date June 16, 2015
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