ALAS, our frailty is the cause … of a new for form of protoporphyria |
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Authors: | LR Brunham |
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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: |
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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 |
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