A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation. [electronic resource]
Producer: 20010802Description: 927-40 p. digitalISSN:- 0964-6906
- Antigens, CD
- Base Sequence
- Codon
- DNA Primers -- chemistry
- Female
- Fibroblasts -- metabolism
- Gangliosides -- metabolism
- Glycolipids -- metabolism
- Glycoproteins -- deficiency
- Glycosphingolipids -- metabolism
- Humans
- Infant, Newborn
- Lactosylceramides -- biosynthesis
- Male
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Saposins
- Sphingolipidoses -- genetics
- Sulfoglycosphingolipids -- metabolism
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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