Congenital Analbuminemia attributable to Compound Heterozygosity for Novel Mutations in the Albumin Gene
Open Access
- 1 July 2005
- journal article
- case report
- Published by Oxford University Press (OUP) in Clinical Chemistry
- Vol. 51 (7), 1256-1258
- https://doi.org/10.1373/clinchem.2005.048561
Abstract
We report the first case of congenital analbuminemia attributable to compound heterozygosity for 2 new mutations in the HSA gene. We also demonstrated that circulating leukocytes may be used to investigate the effects of analbuminemia-causing mutations on mRNA processing, making it possible to reevaluate all analbuminemic patients in whom molecular characterization of the HSA gene was carried out only at the genomic levelKeywords
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