Molecular diagnosis of analbuminemia: a novel mutation identified in two Amerindian and two Turkish families.

@article{Galliano2002MolecularDO,
  title={Molecular diagnosis of analbuminemia: a novel mutation identified in two Amerindian and two Turkish families.},
  author={Monica Galliano and Monica Campagnoli and Antonio Rossi and Carl Heinz Wirsing von Koenig and Andrew W. Lyon and Kivanç Çefle and Alaattin Yildiz and Sukru Palanduz and Sukru Ozturk and Lorenzo Minchiotti},
  journal={Clinical chemistry},
  year={2002},
  volume={48 6 Pt 1},
  pages={844-9}
}
BACKGROUND Analbuminemia is a rare autosomal recessive disorder in which individuals have little or no circulating albumin, usually the most abundant plasma protein. We describe a new mutation associated with analbuminemia. METHODS We studied four apparently unrelated patients who had congenital analbuminemia: two of Amerindian and two of Turkish origin. The 14 exons and the flanking intron sequences of the albumin gene were amplified by PCR and screened for mutations by single-strand… CONTINUE READING

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