Sökning: "jenni jonasson"

Hittade 1 avhandling innehållade orden jenni jonasson.

1. 1. Genetic and Molecular analysis of the Spinocerebellar ataxia type 7 (SCA7) disease gene

   Författare :Jenni Jonasson; Monica Holmberg; Christine Van Broeckhoven; Umeå universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Spinocerebellar ataxia; human genetics; linkage analysis; anticipation; CAG repeat expansion; founder effect; protein expression; ATXN7; Medical genetics; Medicinsk genetik;

   Sammanfattning : Spinocerebellar ataxia type 7 (SCA7) is a hereditary neurodegenerative disorder affecting the cerebellum, pons and retina. SCA7 patients present with gait ataxia and visual impairment as the main symptoms. LÄS MER