PT  - JOURNAL ARTICLE
AU  - Weitkamp, L R
AU  - Sayre, J W
AU  - Schwartz, R H
AU  - Doherty, R
AU  - Khera, S A
TI  - 'Durate variant with clinical signs' has alpha1 -antitrypsin genotype ZZ.
AID  - 10.1136/jmg.13.1.46
DP  - 1976 Feb 01
TA  - Journal of Medical Genetics
PG  - 46--48
VI  - 13
IP  - 1
4099  - http://jmg.bmj.com/content/13/1/46.short
4100  - http://jmg.bmj.com/content/13/1/46.full
SO  - J Med Genet1976 Feb 01; 13
AB  - 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.