Homozygosity for Multiple Contiguous Single-Nucleotide Polymorphisms as an Indicator of Large Heterozygous Deletions: Identification of a Novel Heterozygous 8-kb Intragenic Deletion (IVS7–19 to IVS15–17) in a Patient with Glycogen Storage Disease Type II

This publication has 11 references indexed in Scilit:

• Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease)
  Neuromuscular Disorders, 2002
• Juvenile and adult-onset acid maltase deficiency in France
  Neurology, 2000
• Molecular genetic study of Pompe disease in Chinese patients in Taiwan
  Human Mutation, 1999
• A large Alu -mediated deletion, identified by PCR, as the molecular basis for glycogen storage disease Type II (GSDII)
  Human Genetics, 1999
• Frequency of mutations for glycogen storage disease type II in different populations: the delta525T and deltaexon 18 mutations are not generally "common" in white populations.
  1999
• Glycogen Storage Disease Type II: Identification of Four Novel Missense Mutations (D645N, G648S, R672W, R672Q) and Two Insertions/Deletions in the Acid α-Glucosidase Locus of Patients of Differing Phenotype
  Biochemical and Biophysical Research Communications, 1998
• Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients.
  Journal of Medical Genetics, 1995
• A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII)
  Human Molecular Genetics, 1994
• Human lysosomal α-glucosidase: functional characterization of the glycosylation sites
  Biochemical Journal, 1993
• Isolation and Partial Characterization of the Structural Gene for Human Acid Alpha Glucosidase
  DNA and Cell Biology, 1991