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

Author:

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 et al.

Publication:

The American Journal of Human Genetics

Publisher:

Elsevier

Date:

12 September 2008

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