Mutation c.1190-1delG/N in intron 8 and c.1708G>C/N in exon 12 not reported in the IDUA gene developed a clinical phenotype of Scheie syndrome. [electronic resource]
Producer: 20150203Description: 365-70 p. digitalISSN:- 0535-5133
- Adult
- Amino Acid Substitution
- Dermatan Sulfate -- urine
- Disease Progression
- Exons -- genetics
- Glycosaminoglycans -- metabolism
- Hand Deformities, Acquired -- genetics
- Heterozygote
- Humans
- Iduronidase -- genetics
- Introns -- genetics
- Magnetic Resonance Imaging
- Male
- Mucopolysaccharidosis I -- genetics
- Mutation, Missense
- Phenotype
- Point Mutation
- Sequence Deletion
- Spinal Cord Compression -- etiology
- Symptom Assessment
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Publication Type: Journal Article
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