Thr(118)Met amino acid substitution in the peripheral myelin protein 22 does not influence the clinical phenotype of Charcot-Marie-Tooth disease type 1A due to the 17p11.2-p12 duplication

Brazilian Journal of Medical and Biological Research

Volumn 36, Issue 10, 2003, Pages 1403-1407

  Marques, W ^a   Sweeney, M G ^b   Wood, N W ^b  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

17p duplication; Charcot Marie Tooth disease; CMT1A; Hotspot; PMP22 point mutation

Indexed keywords

AMINO ACID; METHIONINE; MYELIN PROTEIN; THREONINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHROMOSOME 17P; CHROMOSOME DUPLICATION; DISEASE SEVERITY; EXON; FAMILIAL DISEASE; FEMALE; FLUORESCENCE ANALYSIS; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENOTYPE PHENOTYPE CORRELATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MEDICAL LITERATURE; MICROSATELLITE MARKER; NEUROPATHY; PERIPHERAL NEUROPATHY; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; POPULATION RESEARCH; QUANTITATIVE ANALYSIS; RELATIVE; SEQUENCE ANALYSIS;

RAPHIA FRATER;

EID: 0142148319     PISSN: 0100879X     EISSN: 1414431X     Source Type: Journal    
DOI: 10.1590/s0100-879x2003001000018     Document Type: Article

References (9)

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