Gene symbol: HMBS. Disease: porphyria, acute intermittent
Hum Genet
.
2006 Apr;119(3):364.
doi: 10.1007/s00439-006-0139-8.
Authors
E Di Pierro
1
,
V Besana
,
V Moriondo
,
V Brancaleoni
,
M D Cappellini
Affiliation
1
Department of Internal Medicine, University of Milan, Centro Anemie Congenite-Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena IRCCS, Milan, Italy. elena.dipierro@unimi.it
PMID:
16491346
DOI:
10.1007/s00439-006-0139-8
No abstract available
MeSH terms
Amino Acid Substitution*
Base Sequence
Humans
Hydroxymethylbilane Synthase / genetics*
Mutation, Missense*
Porphyria, Acute Intermittent / genetics*
Substances
Hydroxymethylbilane Synthase