Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects
导致家族性低尿钙性高钙血症 3 型 (FHH3) 的衔接蛋白 2 sigma 亚基突变表现出基因型-表型相关性、密码子偏向性和显性负效应
期刊:Human Molecular Genetics
影响因子:3.1
doi:10.1093/hmg/ddv226
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 Kum
