General Implications for CpG Hot Spot Mutations : Methylation Patterns in Hunter patients
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概要
- 論文の詳細を見る
- 2004-10-22
著者
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Tomatsu Shunji
Department Of Pediatrics Saint Louis University
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Tomatsu Shunji
Department Of Pediatrics Cardinal Glennon Children's Hospital Saint Louis University
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- MUCOPOLYSACCHARIDOSIS IVA : A NOVEL SPLICE ACCEPTOR SITE MUTATION IN INTRON 4 OF THE N-ACETYLGALACTOSAMINE-6-SULFATE SULFATASE GENE IN AN AFGHANISTAN GIRL WITH CLASSICAL MORQUIO DISEASE
- Identification of a common mutation in mucopolysaccharidosis IVA : correlation among genotype, phenotype, and keratan sulfate
- Development of Murine Models of Mucopolysaccharidosis IVA and VII and Hereditary Hemochromatosis
- Development of Mucopolysaccahridosis IVA mouse tolerant to human GALNS
- General Implications for CpG Hot Spot Mutations : Methylation Patterns in Hunter patients
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- Determinant factors of spectrum of missense variants in mucopolysaccharidosis IVA
- KS and HS levels as a biomarker for MPS I patients treated by enzyme replacement therapy
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