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. 1976 Feb;13(1):46–48. doi: 10.1136/jmg.13.1.46

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

L R Weitkamp, J W Sayre, R H Schwartz, R Doherty, S A Khera
PMCID: PMC1013349  PMID: 1083909

Abstract

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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