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ALAS, our frailty is the cause … of a new for form of protoporphyria
Authors:LR Brunham
Affiliation:Department of Medicine, Centre for Molecular Medicine and Therapeutics, University of British Columbia, 950 West 28th Avenue, Vancouver, BC V5Z 4H4, Canada.
e-mail:
Abstract:C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload
Whatley et al. (2008)
The American Journal of Human Genetics 83: 408–414
Keywords:
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