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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

✍ Scribed by 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


Book ID
113422520
Publisher
American Society of Human Genetics
Year
2008
Tongue
English
Weight
617 KB
Volume
83
Category
Article
ISSN
0002-9297

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