Novel human pathological mutations. Gene symbol: HMBS. Disease: porphyria, acute intermittent.
Di Pierro
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Department of Internal Medicine- University of Milan, Centro Anemie Congenite-Maggiore Policlinico, Mangiagalli and Regina Elena Hospital IRCCS. Via F.Sforza, 35 20122 Milan, Italy. elena.dipierro@unimi.it
Besana
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Brancaleoni
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Ausenda
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Lonati
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Cappellini
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D003062:Codon / Q000235:genetics; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics*; D017118:Porphyria, Acute Intermittent / Q000201:enzymology* / Q000235:genetics*; D017384:Sequence Deletion
D003062:Codon; D011163:Hydroxymethylbilane Synthase