Title: | Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca2+ channels |
Journal : | Human molecular genetics, 24, 3 |
Authors: | Endo Y ; Noguchi S ; Hara Y ; Hayashi YK ; Motomura K ; Miyatake S ; Murakami N ; Tanaka S ; Yamashita S ; Kizu R ; Bamba M ; Goto YI ; Matsumoto N ; Nonaka I ; Nishino I |
Material Type: | Article |
Publication Date: | 2015 |
Size: | p 637 |
Languages: | English |
Keywords : | calcium channels ; case studies ; cell membrane ; cross-sectional study ; genetic mutations ; intracellular calcium ; Japan ; tubular aggregate myopathy |
Pubmed / DOI : | DOI : 10.1093/hmg/ddu477 / Pubmed : 25227914 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/25227914 |
See also : |