Analysis of a splice-site mutation in the sap-precursor gene of a patient with metachromatic leukodystrophy. [electronic resource]
Producer: 19960221Description: 65-74 p. digitalISSN:- 0002-9297
- Animals
- Base Sequence
- Cell Line
- Child
- Child, Preschool
- Cricetinae
- DNA Primers
- Exons
- Female
- Genes, Recessive
- Glycoproteins -- biosynthesis
- Glycosylation
- Humans
- Kidney
- Leukodystrophy, Metachromatic -- genetics
- Male
- Molecular Sequence Data
- Point Mutation
- Polymerase Chain Reaction
- RNA Splicing
- RNA, Messenger -- metabolism
- Recombinant Proteins -- biosynthesis
- Reference Values
- Saposins
- Sequence Deletion
- Sphingolipid Activator Proteins
- Transfection
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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