Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients.
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A. Reuser | M. Ausems | H. K. Ploos van Amstel | M. Kroos | W. Kleijer | M. Nicolino | M. H. van den Boogaard | O. V. van Diggelen | L. Poenaru | M. van der Kraan
[1] B. Oostra,et al. 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 II , 1994 .
[2] S. Dimauro,et al. Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation. , 1994, Human molecular genetics.
[3] A. Reuser,et al. Deletion of exon 18 is a frequent mutation in glycogen storage disease type II. , 1994, Biochemical and biophysical research communications.
[4] S. Brooks,et al. 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). , 1994, Human molecular genetics.
[5] C Summers,et al. Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). , 1989, Nucleic acids research.
[6] A. Reuser,et al. Glycogenosis type II (acid maltase deficiency) , 1995, Muscle & nerve. Supplement.