Novel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotype. [electronic resource]
Producer: 20051021Description: 111-4 p. digitalISSN:- 0304-3940
- Adult
- Brain -- metabolism
- Codon, Nonsense -- genetics
- DNA Mutational Analysis
- Disease Progression
- Exons -- genetics
- Female
- Genetic Predisposition to Disease -- genetics
- Humans
- Membrane Glycoproteins -- genetics
- Molecular Chaperones -- genetics
- Mutation -- genetics
- Neuronal Ceroid-Lipofuscinoses -- genetics
- Phenotype
- Point Mutation -- genetics
- Protein Structure, Tertiary -- genetics
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Publication Type: Journal Article
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