Autosomal dominant Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies: detection of the recombination in Slovene patients and exclusion of the potentially recessive Thr118Met PMP22 point mutation.

International journal of molecular medicine

Volumn 1, Issue 2, 1998, Pages 495-501

  Leonardis, L ^a   Zidar, J ^a   Ekici, A ^a   Peterlin, B ^a   Rautenstrauss, B ^a  

^a Medical Center   (Slovenia)

Author keywords

[No Author keywords available]

Indexed keywords

METHIONINE; MYELIN PROTEIN; PMP22 PROTEIN, HUMAN; THREONINE;

ARTICLE; DOMINANT GENE; FEMALE; GENETIC RECOMBINATION; GENETICS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; PEDIGREE; POINT MUTATION; RECESSIVE GENE; SLOVENIA;

CHARCOT-MARIE-TOOTH DISEASE; FEMALE; GENES, DOMINANT; GENES, RECESSIVE; HEREDITARY MOTOR AND SENSORY NEUROPATHIES; HUMANS; MALE; METHIONINE; MYELIN PROTEINS; PEDIGREE; POINT MUTATION; RECOMBINATION, GENETIC; SLOVENIA; THREONINE;

MLCS; MLOWN;

EID: 0031988078     PISSN: 11073756     EISSN: None     Source Type: Journal    
DOI: 10.3892/ijmm.1.2.495     Document Type: Article

References (0)