Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family

Neurogenetics

Volumn 6, Issue 3, 2005, Pages 159-163

  Chung, K W ^a   Sunwoo, I N ^b   Kim, S M ^b   Park, K D ^c   Kim, W K ^c   Kim, T S ^b   Koo, H ^c   Cho, M ^d   Lee, J ^d   Choi, B O ^c  

^a Kongju National University   (South Korea)

^b Yonsei University   (South Korea)

^c Ewha Womans University School of Medicine   (South Korea)

^d Yonsei University Wonju College of Medicine   (South Korea)

Author keywords

Charcot Marie Tooth disease; EGR2; Gene; GJB1; Mutation

Indexed keywords

AMINO ACID; EARLY GROWTH RESPONSE FACTOR 2; GJB1 PROTEIN; MICROSATELLITE DNA; NUCLEIC ACID BINDING PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CHILD; CONTROLLED STUDY; DNA MODIFICATION; ELECTROPHYSIOLOGY; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE MARKER; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEUROPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN;

AGE OF ONSET; AMINO ACID SUBSTITUTION; CHARCOT-MARIE-TOOTH DISEASE; CHILD; CONNEXINS; EARLY GROWTH RESPONSE PROTEIN 2; FEMALE; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 25844437472     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-005-0217-4     Document Type: Article

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