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GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease

✍ Scribed by F Caroli; R Biancheri; M Seri; A Rossi; A Pessagno; M Bugiani; F Corsolini; S Savasta; S Romano; C Antonelli; A Romano; D Pareyson; P Gambero; G Uziel; R Ravazzolo; I Ceccherini; M Filocamo


Book ID
110888464
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
170 KB
Volume
72
Category
Article
ISSN
0009-9163

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Niemann Pick disease (NPD) is an autosomal recessive lysosomal storage disorder caused by the deficient activity of acid sphingomyelinase due to mutations in the SMPD1 gene. We functionally characterized three novel SMPD1 mutations and 11 already reported in the Italian population. Mutant alleles we