학술논문
Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects
Document Type
Article
Author
Hannan, F.M.; Howles, S.A.; Rogers, A.; Gorvin, C.M.; Babinsky, V.N.; Reed, A.A.; Thakker, C.E.; Nesbit, M.A.; Thakker, R.V.; Cranston, T.; Bockenhauer, D.; van't Hoff, W.G.; Brown, R.S.; Connell, J.M.; Cook, J.; Darzy, K.; Ehtisham, S.; Mughal, M.Z.; Graham, U.; Hunter, S.J.; Hulse, T.; Izatt, L.; Kumar, D.; McKenna, M.J.; McKnight, J.A.; Morrison, P.J.; O'Halloran, D.; Pearce, S.H.; Porteous, M.E.; Rahman, M.; Richardson, T.; Robinson, R.; Scheers, I.; Siddique, H.; Wang, T.; Whyte, M.P.
Source
In: Human Molecular Genetics . (Human Molecular Genetics, 9 April 2015, 24(18):5079-5092)
Subject
Language
English
ISSN
14602083
09646906
09646906