A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease.

Human mutation

Volumn 14, Issue 4, 1999, Pages 353-354

  Bellone, E ^a   Di Maria, E ^a   Soriani, S ^a   Varese, A ^a   Doria, L L ^a   Ajmar, F ^a   Mandich, P ^a  

^a UNIVERSITY OF GENOA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

DNA BINDING PROTEIN; EARLY GROWTH RESPONSE FACTOR 2; EGR2 PROTEIN, HUMAN; TRANSCRIPTION FACTOR; ZINC FINGER PROTEIN;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 17; FEMALE; GENETICS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; POINT MUTATION; POLYACRYLAMIDE GEL ELECTROPHORESIS; SINGLE STRAND CONFORMATION POLYMORPHISM;

AMINO ACID SUBSTITUTION; CHARCOT-MARIE-TOOTH DISEASE; CHILD; CHROMOSOMES, HUMAN, PAIR 17; DNA-BINDING PROTEINS; EARLY GROWTH RESPONSE PROTEIN 2; ELECTROPHORESIS, POLYACRYLAMIDE GEL; FEMALE; HUMANS; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; TRANSCRIPTION FACTORS; ZINC FINGERS;

EID: 0033208622     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(199910)14:4<353::AID-HUMU17>3.0.CO;2-4     Document Type: Article

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