Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene.
Tomatsu
S
S
Department of Pediatrics, Saint Louis University, Pediatric Research Institute, St. Louis, MO 63110-2586, USA. tomatsus@slu.edu
Nishioka
T
T
Montaño
A M
AM
Gutierrez
M A
MA
Pena
O S
OS
Orii
K O
KO
Sly
W S
WS
Yamaguchi
S
S
Orii
T
T
Paschke
E
E
Kircher
S G
SG
Noguchi
A
A
D000293:Adolescent; D002648:Child; D002811:Chondroitinsulfatases / Q000235:genetics*; D018899:CpG Islands / Q000235:genetics; D004247:DNA / Q000737:chemistry / Q000235:genetics; D019175:DNA Methylation; D004252:DNA Mutational Analysis / Q000379:methods*; D005260:Female; D005820:Genetic Testing / Q000379:methods; D015894:Genome, Human; D006801:Humans; D008297:Male; D009083:Mucopolysaccharidoses / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D016133:Polymerase Chain Reaction / Q000379:methods; D018807:Polymorphism, Single-Stranded Conformational
D004247:DNA; D002811:Chondroitinsulfatases; C102295:GALNS protein, human