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A novel in-frame deletion mutation (c106-111del) identified in a Taiwan Chinese patient with type IVA mucopolysaccharidosis
- Source :
- Human mutation. 18(3)
- Publication Year :
- 2001
- Subjects :
- Male
Adolescent
N acetylgalactosamine 6 sulfate sulfatase
Mucopolysaccharidosis
DNA Mutational Analysis
Taiwan
Biology
Open Reading Frames
Text mining
Genetics
medicine
Humans
Child
Genetics (clinical)
Sequence Deletion
Base Sequence
business.industry
Frame (networking)
Mucopolysaccharidosis IV
DNA
Exons
medicine.disease
Chondroitinsulfatases
Deletion mutation
Mutation
business
Follow-Up Studies
Subjects
Details
- ISSN :
- 10981004
- Volume :
- 18
- Issue :
- 3
- Database :
- OpenAIRE
- Journal :
- Human mutation
- Accession number :
- edsair.doi.dedup.....5e31a414029dffeb1d0ad9477a6c5aa6