Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Pernille L. Larsen"'
Publikováno v:
Ophthalmic genetics. 33(4)
Pathogenic variations in the ABCA4 gene were originally recognized as genetic background for the autosomal recessive disorders Stargardt disease and fundus flavimaculatus, but have expanded to embrace a diversity of retinal diseases, giving rise to t
Autor:
Oddmar Faeroe, Marianne Schwartz, Pernille L. Larsen, Elsebet Ostergaard, Ernst Christensen, Flemming Wibrand, Nicolina Sørensen, John Vissing, Morten Duno, Flemming Juul Hansen, Sigurdur Thorgrimsson
Publikováno v:
Brain : a journal of neurology. 130(Pt 3)
We have identified 12 patients with autosomal recessive mitochondrial encephalomyopathy with elevated methylmalonic acid. The disorder has a high incidence of 1 in 1700 in the Faroe Islands due to a founder effect, and a carrier frequency of 1 in 33.
Autor:
Elsebet Ostergaard, Flemming J. Hansen, Nicolina Sorensen, Morten Duno, John Vissing, Pernille L. Larsen, Oddmar Faeroe, Sigurdur Thorgrimsson, Flemming Wibrand, Ernst Christensen, Marianne Schwartz
Publikováno v:
Brain: A Journal of Neurology; Mar2007, Vol. 130 Issue 3, p853-861, 9p