@article {Weitkamp46, author = {L R Weitkamp and J W Sayre and R H Schwartz and R Doherty and S A Khera}, title = {{\textquoteright}Durate variant with clinical signs{\textquoteright} has alpha1 -antitrypsin genotype ZZ.}, volume = {13}, number = {1}, pages = {46--48}, year = {1976}, doi = {10.1136/jmg.13.1.46}, publisher = {BMJ Publishing Group Ltd}, 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{\textquoteright} clinical state. A question is raised, however, whether the Duarte variant may be specifically associated with the development of liver disease in ZZ individuals.}, issn = {0022-2593}, URL = {https://jmg.bmj.com/content/13/1/46}, eprint = {https://jmg.bmj.com/content/13/1/46.full.pdf}, journal = {Journal of Medical Genetics} }