Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients.
Kroos
M A
MA
Van der Kraan
M
M
Van Diggelen
O P
OP
Kleijer
W J
WJ
Reuser
A J
AJ
Van den Boogaard
M J
MJ
Ausems
M G
MG
Ploos van Amstel
H K
HK
Poenaru
L
L
Nicolino
M
M
D000293:Adolescent; D000328:Adult; D000483:Alleles; D001483:Base Sequence; D017931:DNA Primers; D005787:Gene Frequency; D006009:Glycogen Storage Disease Type II / Q000235:genetics*; D006801:Humans; D007223:Infant; D008969:Molecular Sequence Data; D009154:Mutation; D010641:Phenotype; D000520:alpha-Glucosidases / Q000235:genetics
D017931:DNA Primers; D000520:alpha-Glucosidases