Two novel mutations and coexistence of the 991C>T and the 1339C>T mutation on a single allele in the coproporphyrinogen oxidase gene in Swedish patients with hereditary coproporphyria.
J Hum Genet
; 47(8): 407-12, 2002.
Article
in En
| MEDLINE
| ID: mdl-12181641
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Porphyrias, Hepatic
/
Coproporphyrinogen Oxidase
/
Mutation, Missense
Limits:
Adult
/
Female
/
Humans
/
Male
/
Middle aged
Language:
En
Journal:
J Hum Genet
Journal subject:
GENETICA MEDICA
Year:
2002
Document type:
Article
Affiliation country:
Suecia