MPS II in females: molecular basis of two different cases.
Cudry
S
S
Tigaud
I
I
Froissart
R
R
Bonnet
V
V
Maire
I
I
Bozon
D
D
D000483:Alleles; D000818:Animals; D015139:Blotting, Southern; D002460:Cell Line; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D019175:DNA Methylation; D004303:Dosage Compensation, Genetic; D017809:Fatal Outcome; D005260:Female; D005347:Fibroblasts; D005602:France; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D006822:Hybrid Cells / Q000187:drug effects / Q000201:enzymology / Q000378:metabolism; D007066:Iduronate Sulfatase / Q000235:genetics* / Q000378:metabolism; D017404:In Situ Hybridization, Fluorescence; D007438:Introns / Q000235:genetics; D008297:Male; D016532:Mucopolysaccharidosis II / Q000201:enzymology / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010042:Ouabain / Q000494:pharmacology; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics; D012333:RNA, Messenger / Q000032:analysis / Q000235:genetics; D014960:X Chromosome / Q000235:genetics*
D012333:RNA, Messenger; D010042:Ouabain; D007066:Iduronate Sulfatase