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

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'Durate variant with clinical signs' has alpha1 -antitrypsin genotype ZZ.

A patient with neonatal jaundice and cirrhosis who was previously reported homozygous for the Durate variant of galactose-1-phosphate uridyl transferase has the ZZ genotype for alpha1-antitrypsin. A sister of the patient, also with ZZ genotype, is less severly affected with liver disease and is a heterozygote for the Durate variant. Since a number of patients with ZZ genotype of alpha1-antitrypsin have been previously reported to have liver disease, the latter genotype is the more probable explanation for the patients' clinical state. A question is raised, however, whether the Duarte variant may be specifically associated with the development of liver disease in ZZ individuals.[1]

References

  1. 'Durate variant with clinical signs' has alpha1 -antitrypsin genotype ZZ. Weitkamp, L.R., Sayre, J.W., Schwartz, R.H., Doherty, R., Khera, S.A. J. Med. Genet. (1976) [Pubmed]
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