Allelic variants in the 5' non-coding region of the connexin32 gene: possible pitfalls in the diagnosis of X linked Charcot-Marie-Tooth neuropathy (CMTX).

Journal of medical genetics

Volumn 39, Issue 9, 2002, Pages

  Bergmann, C ^a   Zerres, K ^a   Rudnik Schoneborn S ^a   Eggermann, T ^a   Schroder J M ^a   Senderek, J ^a  

^a UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 32; DNA; GAP JUNCTION PROTEIN;

ALLELE; ARTICLE; CHEMISTRY; COHORT ANALYSIS; DNA FLANKING REGION; FAMILY HEALTH; FEMALE; GENETIC LINKAGE; GENETIC VARIABILITY; GENETICS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PROMOTER REGION; SINGLE STRAND CONFORMATION POLYMORPHISM; X CHROMOSOME;

5' FLANKING REGION; ALLELES; CHARCOT-MARIE-TOOTH DISEASE; COHORT STUDIES; CONNEXINS; DNA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HUMANS; LINKAGE (GENETICS); MALE; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROMOTER REGIONS (GENETICS); VARIATION (GENETICS); X CHROMOSOME;

EID: 0036729639     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.39.9.e58     Document Type: Article

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