Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease)
Hum Mutat
.
1994;4(4):291-3.
doi: 10.1002/humu.1380040410.
Authors
M L Huie
1
,
R Hirschhorn
,
A S Chen
,
F Martiniuk
,
N Zhong
Affiliation
1
New York University Medical Center, Department of Medicine, New York 10016.
PMID:
7866409
DOI:
10.1002/humu.1380040410
No abstract available
Publication types
Case Reports
MeSH terms
Amino Acid Sequence
Base Sequence
DNA Mutational Analysis*
Glycogen Storage Disease Type II / genetics*
Humans
Infant
Male
Molecular Sequence Data
Mutation*
Polymerase Chain Reaction