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A novel duplication/insertion mutation of NEFL in a patient with Charcot-Marie-Tooth disease.
- Source :
-
American journal of medical genetics. Part A [Am J Med Genet A] 2006 May 01; Vol. 140 (9), pp. 1021-5. - Publication Year :
- 2006
- Subjects :
- Aged
Amino Acid Sequence
Base Sequence
Cell Line, Tumor
Fluorescent Antibody Technique, Indirect
Gene Duplication
Humans
Male
Microscopy, Fluorescence
Molecular Sequence Data
Mutagenesis, Insertional
Neurofilament Proteins metabolism
Sequence Homology, Nucleic Acid
Transfection
Charcot-Marie-Tooth Disease genetics
Mutation
Neurofilament Proteins genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1552-4825
- Volume :
- 140
- Issue :
- 9
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics. Part A
- Publication Type :
- Report
- Accession number :
- 16619203
- Full Text :
- https://doi.org/10.1002/ajmg.a.31242