C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload
ALAS2基因C端缺失会导致功能获得，并引起X连锁显性遗传性原卟啉病，但不伴有贫血或铁过载。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2008.08.003
Whatley, Sharon D; Ducamp, Sarah; Gouya, Laurent; Grandchamp, Bernard; Beaumont, Carole; Badminton, Michael N; Elder, George H; Holme, S Alexander; Anstey, Alexander V; Parker, Michelle; Corrigall, Anne V; Meissner, Peter N; Hift, Richard J; Marsden, Joanne T; Ma, Yun; Mieli-Vergani, Giorgina; Deybach, Jean-Charles; Puy, Hervé
