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ArticleMolecular medicine (Cambridge, Mass.)2013

Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria.

Manisha Balwani et al.PubMed ↗Full text ↗Publisher ↗

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