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J Hepatol. 2005 Jun;42(6):947-9. Epub 2005 Apr 7.

Aceruloplasminemia in an asymptomatic patient with a new mutation. Diagnosis and family genetic analysis.

Author information

1
Hepatogastroenterology Service, Hospital Universitario La Fe, Avda. Campanar 21, 46009 Valencia, Spain. fperezaguilar@terra.es

Abstract

A 39-year-old asymptomatic man showed elevated serum ferritin levels, mild hypertransaminasemia and serum ceruloplasmin almost undetectable. There was histological iron accumulation within the hepatocytes and also in the central nervous system (MRI). A genetic analysis revealed a new missense mutation in the ceruloplasmin gene. Two of the other four siblings were also affected by this mutation.

PMID:
15885371
DOI:
10.1016/j.jhep.2005.02.013
[Indexed for MEDLINE]
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