Conditions

Conditions - Disorder Genetics Affects TaySachsDisease AR

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Disorder Genetics Affects Mutation (MOA) Tay-Sachs Disease AR Lysosomal storage disease AD Telomerases XR Telomerases Werner Syndrome Telomerases Bloom syndrome Telomerases Alpha - thalassemia defect in Poly A signal long term anemia Beta - thalassemia Splicing  retinitis pigmentosa Basal spilicing machinery U4/U5/U6 Basal spilicing machinery Fragile X Syndrome AR E3 in protein degradation mutations in the gene Parkin Angelman's Syndrome E3 in protein degradation mutations in the gene E6-AP; mental retardation AD* E3 in protein degradation AD* TP53 -- p53 Retinoblastoma AD* RB1 gene tumor suppressor ; mutation on the gene RB1 mutation in hexosaminidase A (which helps break down  GM2 gangliosides) ==> gangliosides cannot be degraded  ==> accumulates in lysosomes Dyskeratosis  Congenital defecs in the RNA or protein components of the  telomerases -- TERC Dyskeratosis  Congenital defecs in the RNA or protein components of the 
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Conditions - Disorder Genetics Affects TaySachsDisease AR

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