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Nicholas Stargardt (born in 1962) is Professor of History at Oxford University, currently serving as Vice President of Magdalen College. Stargardt is the son of a German-Jewish father and Australian mother. He was born in Melbourne, Australia, and lived in Australia, Japan, England and Germany.
Stargardt disease is the most common inherited single-gene retinal disease. [1] In terms of the first description of the disease, [2] it follows an autosomal recessive inheritance pattern, which has been later linked to bi-allelic ABCA4 gene variants (STGD1).
Choroba Stargardta (ang. Stargardt’s disease, STGD) lub dno żółto-plamiste (łac. fundus flavimaculatus) – dwie formy jednej choroby genetycznej narządu wzroku, spowodowanej mutacją w genie ABCA4, rzadziej CNGB3 albo ELOVL4. Schorzenie dziedziczone jest w sposób autosomalny recesywny.
Stargardt is a genetic disorder. In its typical form (STGD1, OMIM #248200) it is caused by mutations involving the ABCA4 gene, through autosomal recessive homozygous or compound heterozygous transmission. Additionally, autosomal dominant transmission (STGD4, OMIM #603786) is possible, through heterozygous mutations in the PROM1 gene (4p).
Stargardt disease (STGD1; MIM 248200) is the most prevalent inherited macular dystrophy and is associated with disease-causing sequence variants in the gene ABCA4.
Professor Nicholas Stargardt. Subject: Modern History. Department: History. College appointment: Tutorial Fellow. Academic position: Professor of Modern European History.
28 maj 2020 · Stargardt disease (STGD1) is a form of inherited retinal dystrophy attributed to variants affecting function of the large ABCA4 gene and is arguably the most complex monogenic disease.
