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 due to compound heterozygosity for novel mutation in the albumin gene / Campagna, Filomena; Fioretti, Federica; Burattin, M; Romeo, S; Sentinelli, Federica; Bifolco, M; Sirinian, Mi; DEL BEN, Maria; Angelico, Francesco; Arca, Marcello. - In: CLINICAL CHEMISTRY. - ISSN 0009-9147. - 51:(2005), pp. 1256-1258. [10.1373/clinchem.2005.048561]
Congenital analbuminemia due to compound heterozygosity for novel mutation in the albumin gene
CAMPAGNA, Filomena;FIORETTI, FEDERICA;SENTINELLI, Federica;DEL BEN, Maria;ANGELICO, Francesco;ARCA, Marcello
2005
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 level.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
