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

Filomena Campagna | Zendy; Francesca Fioretti | Zendy; Marco Burattin | Zendy; Stefano Romeo | Zendy; Federica Sentinelli | Zendy; Maura Bifolco | Zendy; Maria Isabella Sirinian | Zendy; Maria Del Ben | Zendy; Francesco Angelico | Zendy; Marcello Arca | Zendy

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

Author(s) -

Filomena Campagna,

Francesca Fioretti,

Marco Burattin,

Stefano Romeo,

Federica Sentinelli,

Maura Bifolco,

Maria Isabella Sirinian,

Maria Del Ben,

Francesco Angelico,

Marcello Arca

Publication year - 2005

Publication title -

clinical chemistry

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.705

H-Index - 218

eISSN - 1530-8561

pISSN - 0009-9147

DOI - 10.1373/clinchem.2005.048561

Subject(s) - compound heterozygosity , proband , medicine , exon , endocrinology , stop codon , biology , genetics , mutation , gene

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

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