JCM, Free Full-Text
Por um escritor misterioso
Descrição
Niemann-Pick type C (NPC) disease is an autosomal recessive lysosomal storage disorder caused by mutations in NPC1 or NPC2 genes. In 2009, the molecular characterization of 44 NPC Italian patients has been published. Here, we present an update of the genetic findings in 105 Italian NPC patients belonging to 83 unrelated families (77 NPC1 and 6 NPC2). NPC1 and NPC2 genes were studied following an algorithm recently published. Eighty-four different NPC1 and five NPC2 alleles were identified. Only two NPC1 alleles remained non detected. Sixty-two percent of NPC1 alleles were due to missense variants. The most frequent NPC1 mutation was the p.F284Lfs*26 (5.8% of the alleles). All NPC2 mutations were found in the homozygous state, and all but one was severe. Among newly diagnosed patients, 18 novel NPC1 mutations were identified. The pathogenic nature of 7/9 missense alleles and 3/4 intronic variants was confirmed by filipin staining and NPC1 protein analysis or mRNA expression in patient’s fibroblasts. Taken together, our previous published data and new results provide an overall picture of the molecular characteristics of NPC patients diagnosed so far in Italy.
Origin: Data Analysis and Graphing Software
Tiffany & Co. AU Luxury Jewellery, Gifts & Accessories Since 1837
Home Krystal Restaurants
Jeff Collins Ministry
JCM, Free Full-Text
TONEX Pedal
Marshall JCM 800 MK2 Master Model 100w Lead 1986
Marshall JCM2000 Triple Super Lead 100 Head
JCM Telecom
Development and validation of a next-generation sequencing assay with open-access analysis software for detecting resistance-associated mutations in CMV
JCM-2000 DSL-100 Ampl/Mixer Marshall, Jim, Products Ltd.; Hanwell
Smart View 11.1 2.5 610 - Colaboratory
JCM, Free Full-Text
de
por adulto (o preço varia de acordo com o tamanho do grupo)
