A new de novo mutation of the connexin-32 gene in a patient with X-linked Charcot-Marie-Tooth type 1 disease

Neurological Sciences

Volumn 21, Issue 2, 2000, Pages 109-112

  Di Iorio, G ^a   Cappa, V ^a   Ciccodicola, A ^b   Sampaolo, S ^a   Ammendola, A ^a   Sanges, G ^a   Giugliano, R ^a   D'Urso, M ^b  

^a SECOND UNIVERSITY OF NAPLES   (Italy)

^b INSTITUTE OF GENETICS AND BIOPHYSICS ADRIANO BUZZATI TRAVERSO   (Italy)

Author keywords

Charcol Marie Tooth disease; CMT X1; Connexin 32

Indexed keywords

CONNEXIN 32; GAP JUNCTION PROTEIN;

ADULT; ARTICLE; CASE REPORT; GENETIC LINKAGE; GENETICS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; SURAL NERVE; X CHROMOSOME;

ADULT; BASE SEQUENCE; CHARCOT-MARIE-TOOTH DISEASE; CONNEXINS; HUMANS; LINKAGE (GENETICS); MALE; MUTATION; SURAL NERVE; X CHROMOSOME;

EID: 0034170283     PISSN: 15901874     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100720070105     Document Type: Article

References (13)

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