Analbuminemia Zonguldak: Case report and mutational analysis


Caridi G., Dagnino M., DALGIÇ B., EĞRİTAŞ GÜRKAN Ö., Sancak B., Campagnoli M., ...More

CLINICAL BIOCHEMISTRY, vol.41, pp.288-291, 2008 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 41
  • Publication Date: 2008
  • Doi Number: 10.1016/j.clinbiochem.2007.11.016
  • Journal Name: CLINICAL BIOCHEMISTRY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.288-291
  • Keywords: human serum albumin, analbuminemia, heteroduplex analysis, single-strand conformation polymorphism, DNA sequence, SPLICING MUTATION, ALBUMIN GENE, PROMOTER
  • Gazi University Affiliated: Yes

Abstract

Objectives: To document a new case of the rare disease analbuminemia and to study the molecular defect responsible for the trait.