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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

alpha 1-antitrypsin deficiency detection by direct analysis of the mutation in the gene.

A deficiency in the plasma protease inhibitor alpha 1-antitrypsin can cause chronic obstructive emphysema or infantile liver cirrhosis. This deficiency results from a single amino acid substitution created by a G to A transition in the gene for alpha 1-antitrypsin. Chemically synthesized specific oligonucleotide probes (19-mer) have been used to develop a sensitive and direct test for the presence or absence of the mutant gene in any individual, which can be used for prenatal diagnosis of the deficiency syndrome.[1]

References

  1. alpha 1-antitrypsin deficiency detection by direct analysis of the mutation in the gene. Kidd, V.J., Wallace, R.B., Itakura, K., Woo, S.L. Nature (1983) [Pubmed]
 
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