Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency. [electronic resource]
Producer: 20061213Description: 245-53 p. digitalISSN:- 1096-7192
- Adolescent
- Aminopeptidases
- Base Sequence
- Brain -- diagnostic imaging
- Child
- Child, Preschool
- DNA Mutational Analysis
- Dipeptidyl-Peptidases and Tripeptidyl-Peptidases
- Endopeptidases -- genetics
- Female
- Fibroblasts -- metabolism
- Gene Expression Profiling
- Gene Expression Regulation
- Genome, Human -- genetics
- Humans
- Lysosomal Membrane Proteins
- Magnetic Resonance Imaging
- Membrane Glycoproteins -- genetics
- Membrane Proteins -- deficiency
- Molecular Chaperones -- genetics
- Molecular Sequence Data
- Mutation -- genetics
- Neuronal Ceroid-Lipofuscinoses -- genetics
- Portugal
- RNA, Messenger -- genetics
- Radiography
- Serine Proteases
- Sweat Glands -- ultrastructure
- Thiolester Hydrolases
- Tripeptidyl-Peptidase 1
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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