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

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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
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container_title Clinical chemistry (Baltimore, Md.)
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creator PETERSEN, N. E
NISSEN, H
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HØRDER, M
description
doi_str_mv 10.1093/clinchem/42.1.106
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source Oxford Journals Online
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
title R325X mutation in exon 15 of the hydroxymethylbilane synthase gene identified in two Danish families with acute intermittent porphyria
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