Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. [electronic resource]
Producer: 20020322Description: 726-36 p. digitalISSN:- 0002-9297
- Algeria
- Amino Acid Sequence
- Animals
- Arginine -- genetics
- Axons -- pathology
- Base Sequence
- Charcot-Marie-Tooth Disease -- classification
- Consanguinity
- Conserved Sequence
- Electrophysiology
- Exons -- genetics
- Female
- Genes, Recessive -- genetics
- Homozygote
- Humans
- Lamin Type A
- Lamins
- Linkage Disequilibrium -- genetics
- Male
- Mice
- Mice, Knockout
- Molecular Sequence Data
- Mutation -- genetics
- Nuclear Envelope -- chemistry
- Nuclear Proteins -- analysis
- Pedigree
- Sciatic Nerve -- pathology
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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