A novel duplication/insertion mutation of NEFL in a patient with Charcot-Marie-Tooth disease

American Journal of Medical Genetics

Volumn 140 A, Issue 9, 2006, Pages 1021-1025

  Leung, Conrad L ^a,d   Nagan, Narasimhan ^b   Graham, Thomas H ^c   Liem, Ronald K H ^a  

^a Columbia University ^*  (United States)

^b ATHENA DIAGNOSTICS INC   (United States)

^c Main Line Health Heart Center   (United States)

^d NewYork Presbyterian Hospital   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA INTERNEXIN;

AGED; ARTICLE; CASE REPORT; FRAMESHIFT MUTATION; GENE; GENE DUPLICATION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; NEFL GENE; NERVE CONDUCTION; NERVE FIBER DEGENERATION; NEUROFILAMENT; PRIORITY JOURNAL; PROTEIN ASSEMBLY;

AGED; AMINO ACID SEQUENCE; BASE SEQUENCE; CELL LINE, TUMOR; CHARCOT-MARIE-TOOTH DISEASE; FLUORESCENT ANTIBODY TECHNIQUE, INDIRECT; GENE DUPLICATION; HUMANS; MALE; MICROSCOPY, FLUORESCENCE; MOLECULAR SEQUENCE DATA; MUTAGENESIS, INSERTIONAL; MUTATION; NEUROFILAMENT PROTEINS; SEQUENCE HOMOLOGY, NUCLEIC ACID; TRANSFECTION;

EID: 33646079176     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31242     Document Type: Article

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