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Novel human pathological mutations. Gene symbol: UROD. Disease: porphyria, cutaneous.

Authors :
Brancaleoni V
Di Pierro E
Besana V
Ausenda S
Cappellini MD
Source :
Human genetics [Hum Genet] 2007 Dec; Vol. 122 (5), pp. 554.
Publication Year :
2007

Subjects

Subjects :
Amino Acid Substitution
Codon genetics
Humans
Porphyria Cutanea Tarda enzymology
Mutation, Missense
Porphyria Cutanea Tarda genetics
Uroporphyrinogen Decarboxylase genetics

Details

Language :
English
ISSN :
1432-1203
Volume :
122
Issue :
5
Database :
MEDLINE
Journal :
Human genetics
Publication Type :
Academic Journal
Accession number :
18383604

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