Sep 7, 2009 not in the families with gyrate atrophy. The parents of the patients with gyrate atrophy in Pedigree I were third cousins. The...
|
bjo.bmj.com/content/58/11/907.full.pdf
|
|
was present in relatives in Pedigree. 3, but not in the families with gyrate atrophy. The parents of the patients with gyrate atrophy in Pedigree
|
bjo.bmj.com/cgi/reprint/58/11/907.pdf
|
|
Design Natural history study of 2 pairs of siblings with gyrate atrophy treated with an arginine-restricted diet. The 2 sisters in pedigree GA 008 are Americans of German/Italian ancestry. The brother and sister in pedigree GA 021 are Lebanese.
|
archopht.ama-assn.org/cgi/content/full/120/2/146
|
|
Gyrate atrophy of the choroid and retina (GA) is an inherited one of two missense mutant OAT alleles to be present in each of 16 Finnish GA pedigrees.
|
www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2864...
www.pubmedcentral.nih.gov/articlerender.fcgi?artid=286431
|
|
NM_000274.2 Homo sapiens ornithine aminotransferase (gyrate atrophy) (OAT), nuclear gene encoding mitochondrial protein, mRNA PA CR457045.1 Homo sapiens full open reading frame cDNA clone RZPDo834H0811D for gene OAT, ornithine aminotransferase (gyrate atrophy); complete cds, incl. stopcodon P...
|
www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=52333...
www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=523332
|
|
tion, gyrate atrophy of the choroid and retina (GA). To study .... from Finnish pedigree 14 during the systematic sequencing of...
|
www.pnas.org/content/86/1/197.full.pdf
|
|
1974a) where pedigree analysis and consanguinity documen- tation prove autosomal Investigation of the primary enzyme deficiency in gyrate atrophy
|
linkinghub.elsevier.com/retrieve/pii/0197018680900790
|
|
This study will evaluate the safety and effectiveness of gene therapy for patients with gyrate atrophy, an inherited condition in which areas of the retina-the inner lining of the wall of the eye-become thin.
|
clinicaltrials.gov/show/NCT00001735
|
|
Gyrate atrophy is a rare hereditary disease of the eye's retina (the layer of light-sensitive tissue that lines the inside of the eyeball) and choroid (a vascular layer of tissue behind the retina). Degeneration of these structures causes near-sightedness, cataracts and progressive loss of vision.
|
clinicaltrials.gov/show/NCT00001166
|
|
