An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients. [electronic resource]
Producer: 20100105Description: 372-82 p. digitalISSN:- 1399-0004
- Aminopeptidases -- deficiency
- Argentina
- Child
- Child, Preschool
- Dipeptidyl-Peptidases and Tripeptidyl-Peptidases -- deficiency
- Female
- Genetic Predisposition to Disease -- genetics
- Genotype
- Hispanic or Latino
- Humans
- Male
- Membrane Proteins -- deficiency
- Mutation -- genetics
- Neuronal Ceroid-Lipofuscinoses -- genetics
- Phenotype
- Serine Proteases -- deficiency
- Thiolester Hydrolases
- Tripeptidyl-Peptidase 1
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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