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Three splicing defects, an insertion, and two missense mutations responsible for acute intermittent porphyria
Authors:S Mustajoki  Hannele Pihlaja  Helena Ahola  Niels Erik Petersen  Pertti Mustajoki  Raili Kauppinen
Institution:(1) Department of Medicine, Division of Endocrinology, Helsinki University Central Hospital, P.O.BOX 340, FIN-00029 HYKS, Helsinki, Finland e-mail: sami.mustajoki@helsinki.fi, Tel.: +3589 471 2324, Fax: +3589 471 4012, FI;(2) Department of Clinical Chemistry, Odense University Hospital, DK-5000 Odense C, Denmark, DK
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