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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 level

Congenital Analbuminemia attributable to Compound Heterozygosity for Novel Mutations in the Albumin Gene