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Identification and Biochemical Characterization of a Novel Mutation in DDX11 Causing Warsaw Breakage Syndrome

✍ Scribed by Capo-Chichi, José-Mario; Bharti, Sanjay Kumar; Sommers, Joshua A.; Yammine, Tony; Chouery, Eliane; Patry, Lysanne; Rouleau, Guy A.; Samuels, Mark E.; Hamdan, Fadi F.; Michaud, Jacques L.; Brosh Jr, Robert M.; Mégarbane, André; Kibar, Zoha


Book ID
118759316
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
339 KB
Volume
34
Category
Article
ISSN
1059-7794

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Aspartylglucosaminuria (AGU) is a recessively inherited metabolic disorder caused by the deficiency of a lysosomal enzyme, aspartylglucosaminidase. The worldwide most common mutation causing the disease is the AGU,,,, enriched in Finland; all the other known AGU mutations are family-specific. We dev