C-Terminal Deletions in the ALAS2 Gene Lead to Gain of Function and Cause X-linked Dominant Protoporphyria without Anemia or Iron Overload
Sharon D. Whatley(University Hospital of Wales), Sarah Ducamp(Inserm), Laurent Gouya(Inserm), Bernard Grandchamp(Inserm), Carole Beaumont(Inserm), Michael N. Badminton(University Hospital of Wales), George H. Elder(University Hospital of Wales), S. Alexander Holme(University Hospital of Wales), A. Anstey(University Hospital of Wales), Michelle Parker(University of Cape Town), Anne V. Corrigall(University of Cape Town), Peter N. Meissner(University of Cape Town), Richard Hift(University of Cape Town), Joanne Marsden(King's College Hospital), Yun Ma(King's College London), Giorgina Mieli‐Vergani(King's College London), Jean‐Charles Deybach(Inserm), Hervé Puy(Inserm)
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