Novel human pathological mutations. Gene symbol: HMBS. Disease: Acute intermittent porphyria

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Bibliographic Details
Published in:Human genetics 2010-01, Vol.127 (1), p.114-114
Main Authors: Ulbrichova, Dana, Mamet, Rivka, Munter, Gabriel, Martasek, Pavel, Schoenfeld, Nili
Format: Article
Language:English
Subjects:
Base Sequence
Codon - genetics
Female
Frameshift Mutation
Humans
Hydroxymethylbilane Synthase - genetics
Mutagenesis, Insertional
Porphyria, Acute Intermittent - genetics
Online Access:Get full text
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ISSN:1432-1203