Detection of a novel splicing mutation causing analbuminemia in a Libyan family.

@article{Bibi2012DetectionOA,
  title={Detection of a novel splicing mutation causing analbuminemia in a Libyan family.},
  author={Amina Bibi and Latifa Jouini and Chaima Abdelhafidh Sahli and Sondess Hadj Fredj and Kamel Abidi and Lamia Gharsallah and Sondess Mathlouthi and Faida Ouali and Hajer Siala and Raja Belhaj and Azza Sammoud and Taieb Messaoud},
  journal={Clinical biochemistry},
  year={2012},
  volume={45 15},
  pages={1183-6}
}
BACKGROUND AND OBJECTIVES Analbuminemia is a very rare autosomal recessive disorder. It is an allelic heterogeneous defect caused by a variety of mutations within the albumin gene. We describe in this report two new cases of analbuminemia in Libyans. DESIGN AND METHODS The 14 coding exons of the human serum albumin (HSA) gene and their intron-exon junctions were PCR amplified. The products were screened for mutations by Denaturing High Performance Liquid Chromatography (DHPLC). Samples with… CONTINUE READING

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