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.
JCM, Free Full-Text
Central service technical manual : Free Download, Borrow, and Streaming : Internet Archive
Home
Home Krystal Restaurants
gospel event january 2024｜TikTok Search
Manuscript Submission Guidelines
Ucr Spss Get File - Colaboratory
Solved Please Help Need ASAP Assembly Language Upload the
How Often Should Quantiferon Gold Test Be Done - Printable Templates Free
Diseases of the skin: their constitutional nature and cure : Burnett, J. Compton (James Compton), 1840-1901? : Free Download, Borrow, and Streaming : Internet Archive
de
por adulto (o preço varia de acordo com o tamanho do grupo)
