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Gene Dosage Analysis Identifies Large Deletions of the FECH Gene in 10% of Families with Erythropoietic Protoporphyria.
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- Journal of Investigative Dermatology, 2007, v. 127, n. 12, p. 2790, doi. 10.1038/sj.jid.5700924
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Pseudoexon Activation in the HMBS Gene as a Cause of the Nonerythroid Form of Acute Intermittent Porphyria.
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- Clinical Chemistry, 2013, v. 59, n. 7, p. 1123, doi. 10.1373/clinchem.2012.199117
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- Article