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123. Construction & characterization of mutation-specific mouse models for Types A and B Niemann–Pick disease

✍ Scribed by Edward Schuchman; Iwan Jones; Fourogh Katouzian


Book ID
116988557
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
42 KB
Volume
96
Category
Article
ISSN
1096-7192

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Niemann-Pick disease (NPD) types A/B are both caused by a deficiency of lysosomal acid sphingomyelinase and display autosomal recessive inheritance. These two types of the disease were described according to the presence (type A) or absence (type B) of neurological symptoms. We present a molecular a