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MPS II in females: molecular basis of two different cases.
- Source :
-
Journal of medical genetics [J Med Genet] 2000 Oct; Vol. 37 (10), pp. E29. - Publication Year :
- 2000
- Subjects :
- Alleles
Animals
Blotting, Southern
Cell Line
Child
Child, Preschool
DNA Methylation
Fatal Outcome
Female
Fibroblasts
France
Genes, Recessive genetics
Humans
Hybrid Cells drug effects
Hybrid Cells enzymology
Hybrid Cells metabolism
Iduronate Sulfatase metabolism
In Situ Hybridization, Fluorescence
Introns genetics
Male
Mucopolysaccharidosis II enzymology
Ouabain pharmacology
Phenotype
Polymorphism, Genetic genetics
RNA, Messenger analysis
RNA, Messenger genetics
Chromosome Deletion
Dosage Compensation, Genetic
Iduronate Sulfatase genetics
Mucopolysaccharidosis II genetics
Mutation genetics
X Chromosome genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1468-6244
- Volume :
- 37
- Issue :
- 10
- Database :
- MEDLINE
- Journal :
- Journal of medical genetics
- Publication Type :
- Report
- Accession number :
- 11015461
- Full Text :
- https://doi.org/10.1136/jmg.37.10.e29