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Two new mutations in the acid sphingomyelinase gene causing type a Niemann–Pick disease: N389T and R441X

✍ Scribed by Edward H. Schuchman


Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
232 KB
Volume
6
Category
Article
ISSN
1059-7794

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Niemann-Pick type C disease is an autosomal recessive disorder caused by mutations in either the NPC1 or NPC2 gene. While most of the mutations are missense, a few splicing mutations have also been described. We identified and characterized a novel point mutation c.1554-1009G>A located in intron 9 o