Nonsense-mediated mRNA decay process in nine alleles of Niemann-Pick type C patients from Spain. [electronic resource]
Producer: 20090527Description: 60-4 p. digitalISSN:- 1096-7206
- Alleles
- Carrier Proteins -- genetics
- Codon, Nonsense -- genetics
- Fibroblasts -- pathology
- Genotype
- Humans
- Intracellular Signaling Peptides and Proteins
- Membrane Glycoproteins -- genetics
- Mutation -- genetics
- Niemann-Pick C1 Protein
- Niemann-Pick Disease, Type C -- genetics
- Phenotype
- RNA Stability -- genetics
- Spain
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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