Screening for mutations the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients

Human Mutation

Volumn 15, Issue 4, 2000, Pages 340-347

  Mersiyanova, Irina V ^a   Ismailov, Sookhrat M ^a   Polyakov, Alexandr V ^a   Dadali, Elena L ^a   Fedotov, Valeriy P ^b   Nelis, Eva ^c   Löfgren, Ann ^c   Timmerman, Vincent ^c   Van Broeckhoven, Christine ^c   Evgrafov, Oleg V ^a  

^a RESEARCH CENTRE FOR MEDICAL GENETICS   (Russian Federation)

^b Genetic Counseling Department   (Russian Federation)

^c DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

Author keywords

Charcot Marie Tooth neuropathy; CMT; GJB1; MPZ; Mutation detection; Myelin genes; PMP22

Indexed keywords

GAP JUNCTION PROTEIN; MYELIN PROTEIN;

ARTICLE; CHROMOSOME 17P; DISEASE ASSOCIATION; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENETIC SCREENING; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MAJOR CLINICAL STUDY; NERVE CONDUCTION; PRIORITY JOURNAL;

ADULT; CHARCOT-MARIE-TOOTH DISEASE; CONNEXINS; DNA MUTATIONAL ANALYSIS; FEMALE; GENE DUPLICATION; GENETIC SCREENING; HUMANS; MALE; MYELIN P0 PROTEIN; MYELIN PROTEINS;

EID: 0034032649     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(200004)15:4<340::AID-HUMU6>3.0.CO;2-Y     Document Type: Article

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