Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene. [electronic resource]
Producer: 20080529Description: 108-11 p. digitalISSN:- 1128-2460
- Adult
- Amino Acid Sequence
- Charcot-Marie-Tooth Disease -- diagnosis
- GTP Phosphohydrolases -- genetics
- Genotype
- Humans
- Leucine
- Male
- Membrane Proteins -- genetics
- Membrane Transport Proteins -- genetics
- Mitochondrial Membrane Transport Proteins
- Mitochondrial Proteins -- genetics
- Molecular Sequence Data
- Muscular Atrophy
- Mutation
- Nerve Tissue Proteins -- genetics
- Phenotype
- Poland
- Proline
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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