Glu528del in NEFL is a polymorphic variant rather than a disease-causing mutation for Charcot-Marie-Tooth disease in Japan [1]

Neurogenetics

Volumn 5, Issue 1, 2004, Pages 75-77

  Yamamoto, Masahiko ^a   Yoshihara, Tsuyoshi ^a   Hattori, Naoki ^a   Sobue, Gen ^a  

^a NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Charcot Marie Tooth disease; Neurofilament light gene; Polymorphism

Indexed keywords

ADOLESCENT; ADULT; ALLELE; CLINICAL ARTICLE; FEMALE; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOSITY; HUMAN; LETTER; MALE; MOTOR NERVE CONDUCTION; NEFL GENE; NEUROFILAMENT; NEUROPATHOLOGY; PRIORITY JOURNAL;

ADOLESCENT; ADULT; CHARCOT-MARIE-TOOTH DISEASE; FEMALE; HUMANS; JAPAN; MALE; NEUROFILAMENT PROTEINS; POINT MUTATION; POLYMORPHISM, GENETIC; VARIATION (GENETICS);

EID: 1542350078     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-003-0159-7     Document Type: Letter

References (7)

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