Identification of novel sequence variants in the neurofilament-light gene in a Japanese population: Analysis of Charcot-Marie-Tooth disease patients and normal individuals

Journal of the Peripheral Nervous System

Volumn 7, Issue 4, 2002, Pages 221-224

  Yoshihara, Tsuyoshi ^a   Yamamoto, Masahiko ^a   Hattori, Naoki ^a   Misu, Ken ichiro ^a   Mori, Keiko ^a   Koike, Haruki ^a   Sobue, Gen ^a  

^a NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Charcot Marie Tooth disease; Japanese; Mutation; Neurofilament L; Non isotopic RNase cleavage assay; Single nucleotide polymorphism

Indexed keywords

ALANINE; ASPARAGINE; PROLINE; RIBONUCLEASE; SERINE; THREONINE; VALINE;

ADOLESCENT; ADULT; AGAR GEL ELECTROPHORESIS; ALLELE; ARTICLE; BASE MISPAIRING; CONTROLLED STUDY; ENZYME ASSAY; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; JAPAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NEUROFILAMENT; PHENOTYPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AMINO ACID SUBSTITUTION; CHARCOT-MARIE-TOOTH DISEASE; HUMANS; JAPAN; MALE; MIDDLE AGED; MUTATION; NEUROFILAMENT PROTEINS; POLYMORPHISM, GENETIC; VARIATION (GENETICS);

EID: 0036900365     PISSN: 10859489     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1529-8027.2002.02028.x     Document Type: Article

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