Ontology highlight
ABSTRACT:
SUBMITTER: Ljujic M
PROVIDER: S-EPMC3036068 | biostudies-literature | 2010 Jan
REPOSITORIES: biostudies-literature
Ljujic Mila M Topic Aleksandra A Nikolic Aleksandra A Divac Aleksandra A Grujic Milan M Mitic-Milikic Marija M Radojkovic Dragica D
Genetics and molecular biology 20100101 1
The alpha-1-antitrypsin (A1AT) gene is highly polymorphic, with more than 100 genetic variants identified of which some can affect A1AT protein concentration and/or function and lead to pulmonary and/or liver disease. This study reports on the characterization of a p.G320R variant found in two patients, one with emphysema and the other with lung cancer. This variant results from a single base-pair substitution in exon 4 of the A1AT gene, and has been characterized as P by isoelectric focusing. F ...[more]