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Molecular analysis of the AGL gene: Identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III

โœ Scribed by Goldstein, Jennifer L; Austin, Stephanie L; Boyette, Keri; Kanaly, Angela; Veerapandiyan, Aravind; Rehder, Catherine; Kishnani, Priya S; Bali, Deeksha S


Book ID
123611686
Publisher
Nature Publishing Group
Year
2010
Tongue
English
Weight
508 KB
Volume
12
Category
Article
ISSN
1098-3600

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Molecular genetic analysis of 40 patients with glycogen storage disease type Ia (GSD Ia) revealed mutations on all 80 alleles and verified the diagnosis in all patients. At least 7 patients were diagnosed with GSD Ia solely on the basis of clinical findings prior to our analysis. Five mutations, Q20