Glycogen-Storage Disease Type II (Acid Maltase Deficiency): Identification of a Novel Small Deletion (delCC482+483) in French Patients
- 9 June 1997
- journal article
- Published by Elsevier in Biochemical and Biophysical Research Communications
- Vol. 235 (1) , 138-141
- https://doi.org/10.1006/bbrc.1997.6749
Abstract
No abstract availableKeywords
This publication has 24 references indexed in Scilit:
- 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
- Genetic defects in patients with glycogenosis type II (acid maltase deficiency)Muscle & Nerve, 1995
- Glycogenosis type II (acid maltase deficiency)Muscle & Nerve, 1995
- The effect of a single base pair deletion (ΔT525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal α-glucosidase in patients with glycogen storage disease type IIHuman Molecular Genetics, 1994
- Deletion of Exon 18 Is a Frequent Mutation in Glycogen Storage Disease Type IIBiochemical and Biophysical Research Communications, 1994
- 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
- Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease)Human Mutation, 1994
- Identification of a Missense Mutation in an Adult-Onset Patient with Glycogenosis Type II Expressing Only One AlleleDNA and Cell Biology, 1991
- Identification of a point mutation in the human lysosomal α-glucosidase gene causing infantile glycogenosis type IIBiochemical and Biophysical Research Communications, 1991
- Sequence of the cDNA and 5′-Flanking Region for Human Acid α-Glucosidase, Detection of an Intron in the 5′ Untranslated Leader Sequence, Definition of 18-bp Polymorphisms, and Differences with Previous cDNA and Amino Acid SequencesDNA and Cell Biology, 1990