Frequency of the deletion polymorphism of DNASE1L1 in 137 patients with acid maltase deficiency (Pompe disease).
Klaske D
KD
Lichtenbelt
Richard J
RJ
Sinke
Margreet G E M
MG
Ausems
Marian A
MA
Kroos
Arnold J J
AJ
Reuser
John J H
JJ
Wokke
D002675:Child, Preschool; D002872:Chromosome Deletion; D003850:Deoxyribonuclease I / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006009:Glycogen Storage Disease Type II / Q000235:genetics*; D006801:Humans; D008297:Male; D009124:Muscle Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic
D009124:Muscle Proteins; C097585:DNASE1L1 protein, human; D003850:Deoxyribonuclease I