Get started
Work

C-Terminal Deletions in the ALAS2 Gene Lead to Gain of Function and Cause X-linked Dominant Protoporphyria without Anemia or Iron Overload

Year: 2008
Type: article
DOI: 10.1016/j.ajhg.2008.08.003
Authors: Sharon D. Whatley, Sarah Ducamp, Laurent Gouya, Bernard Grandchamp, Carole Beaumont, Michael N. Badminton, George H. Elder, S. Alexander Holme, Alexander V. Anstey, Michelle Parker, Anne V. Corrigall, Peter N. Meissner, Richard J. Hift, Joanne T. Marsden, Yun Ma, Giorgina Mieli-Vergani, Jean-Charles Deybach, Hervé Puy
Institutions: University Hospital of Wales, Cardiff University, Inserm, Hôpital Louis-Mourier, Assistance Publique – Hôpitaux de Paris, Université Paris Diderot, Hôpital Bichat-Claude-Bernard, University of Cape Town, King's College Hospital, King's College London
Language: English
Open Access status: bronze
OpenAlex ID: W2107857612
FWCI: 5.088
Cites: 22
Cited by: 294
Related to: 9