A subtle clue to the histopathologic diagnosis of early alpha 1-antitrypsin deficiency
Steven Tuffin, 27, of Maghull, was born with a rare genetic liver condition - alpha 1-antitrypsin deficiency
The paper describes highly specific and efficient ZFN-mediated correction of a defective human A1 AT gene in iPSCs derived from skin cells from individuals with alpha 1-antitrypsin deficiency
The paper describes highly specific and efficient ZFN-mediated correction of a defective human A1AT gene in iPSCs derived from skin cells from individuals with alpha 1-antitrypsin deficiency
Serum alpha 1-antitrypsin deficiency
associated with the common S-type (glu264--val) mutation results from intracellular degradation of alpha 1-antitrypsin prior to secretion.
Practical genetics: alpha 1-antitrypsin deficiency
and the serpinopathics.
The research is being applied to diseases such as cystic fibrosis, a genetic lung and liver disorder called alpha 1-antitrypsin deficiency
, inherited metabolic disorders such as lysosomal storage disease, and a fatal progressive nerve disease called Canavan disease; as well as eye disorders such as
According to Halperin, the 50-year-old has been diagnosed with Alpha 1-antitrypsin deficiency
, a genetic condition that can be fatal in severe cases.
Alpha 1-antitrypsin Null (isola di procida): an alpha 1-antitrypsin deficiency
allele caused by deletion of all alpha 1-antitrypsin coding exons.
Screening for homozygous and heterozygous alpha 1-antitrypsin deficiency
Mum-of-one Pauline, 41, of Edinburgh, a former nurse at the city's Royal Infirmary who has Alpha 1-antitrypsin deficiency
, is now campaigning for all Scots lung disease sufferers to get oxygen at a cost of pounds 450 a month.
Despite these successful results, Crystal predicts that emphysema caused by alpha 1-antitrypsin deficiency
will probably not be the first human disease treated by nasally administered gene therapy, since the disease is already treatable by other means.