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    Hum Genet. 2009 Aug;126(2):339.

    Novel human pathological mutations. Gene symbol: HMBS. Disease: Porphyria, acute intermittent.

    Di Pierro E, Brancaleoni V, Stanzial F, Benedicenti F, Castellan C, Cappellini MD.

    Internal Medicine, Maggiore Policlinico Foundation IRCCS-University of Milan, Milano, Italy. elena.dipierro@unimi.it

    PMID: 19694018 [PubMed - indexed for MEDLINE]

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