C-Terminal Deletions in the ALAS2 Gene Lead to Gain of Function and Cause X-linked Dominant Protoporphyria without Anemia or Iron Overload-Reference-Cited by-同舟云学术

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

Published:2008-09 Issue:3 Volume:83 Page:408-414
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

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

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

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