Estimation of the mutation frequencies in charcot-marie-tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: A European collaborative study

European Journal of Human Genetics

Volumn 4, Issue 1, 1996, Pages 25-33

  Van Broeckhoven, Eva Nelis Christine ^a  

^a UNIVERSITY OF ANTWERP   (Belgium)

Author keywords

Charcot Marie Tooth disease type 1; CMT1A duplication; Hereditary neuropathy with liability to pressure palsies; HNPP deletion; Mutation; Myelin genes

Indexed keywords

MYELIN PROTEIN;

ARTICLE; GENE DELETION; GENE DUPLICATION; GENE STRUCTURE; HEREDITARY MOTOR SENSORY NEUROPATHY; MUTANT; MUTATION RATE; NEUROPATHY; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PARALYSIS; PRIORITY JOURNAL;

CHARCOT-MARIE-TOOTH DISEASE; CHROMOSOMES, HUMAN, PAIR 17; CONNEXINS; EUROPE; GENE DELETION; GENE FREQUENCY; GENETIC SCREENING; HEREDITARY MOTOR AND SENSORY NEUROPATHIES; HUMANS; MULTIGENE FAMILY; MUTATION; MYELIN P0 PROTEIN; MYELIN PROTEINS; X CHROMOSOME;

EID: 0029863589     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1159/000472166     Document Type: Article

References (1)

1. Emery AEH: Population frequencies of inherited neuromuscular diseases - A world survey. Neuromusc Disord 1991;1:19-29.