R325X mutation in exon 15 of the hydroxymethylbilane synthase gene identified in two Danish families with acute intermittent porphyria

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Bibliographic Details
Published in:Clinical chemistry (Baltimore, Md.) Md.), 1996, Vol.42 (1), p.106-107
Main Authors: PETERSEN, N. E, NISSEN, H, HANSEN, T. S, RASMUSSEN, K, BROCK, A, HØRDER, M
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Child, Preschool
Exons
Humans
Hydroxymethylbilane Synthase - genetics
Male
Medical sciences
Metabolic diseases
Mutation
Other metabolic disorders
Pigments (porphyrias, hyperbilirubinemias...)
Porphyria, Acute Intermittent - genetics
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Summary:
ISSN:0009-9147
1530-8561
DOI:10.1093/clinchem/42.1.106