VARIANT: 3145v1
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Entry
3145v1 Variant
Name
HMBS deficiency
Gene
HMBS
hydroxymethylbilane synthase [KO:
K01749
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
609806
Reference
PMID:
2243128
Authors
Delfau MH, Picat C, de Rooij FW, Hamer K, Bogard M, Wilson JH, Deybach JC, Nordmann Y, Grandchamp B
Title
Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria.
Journal
J Clin Invest 86:1511-6 (1990)
DOI:
10.1172/JCI114869
All links
Gene (1)
OMIMVAR (1)
Literature (1)
PubMed (1)
All databases (2)
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