The R608del mutation in the acid sphingomyelinase gene (SMPD1 ) is the most prevalent among patients from Gran Canaria Island with Niemann-Pick disease type B
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1034/j.1399-0004.2003.00025.x/fullpdf
Reference8 articles.
1. Major genomic mitochondrial lineages delineate early human expansions;Maca-Meyer;BMC Genet,2001
2. Niemann-Pick type-B disease-identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type-A and type-B patients;Levran;J Clin Invest,1991
3. Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa;Vanier;Hum Genet,1993
4. Niemann-Pick disease type B. an unusual clinical presentation with multiple vertebral fractures;Volders;Am J Med Genet,2002
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