Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease

Journal of Neurology

Volumn 257, Issue 5, 2010, Pages 735-741

  Huang, Jia ^a   Wu, Xingyao ^b   Montenegro, Gladys ^a   Price, Justin ^a   Wang, Gaofeng ^a   Vance, Jeffery M ^a   Shy, Michael E ^b   Züchner, Stephan ^a  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Charcot Marie Tooth disease; CMT1A; Copy number variation; Peripheral neuropathies

Indexed keywords

GENOMIC DNA; PROTEIN; PROTEIN CMT 1A; UNCLASSIFIED DRUG;

ARTICLE; CHROMOSOME 17; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COPY NUMBER VARIATION; FEMALE; GENE DELETION; GENE LOCUS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MICROARRAY ANALYSIS; PRIORITY JOURNAL; PROMOTER REGION; SEQUENCE ANALYSIS;

CHARCOT-MARIE-TOOTH DISEASE; CHROMOSOMES, HUMAN, PAIR 17; DNA COPY NUMBER VARIATIONS; EXONS; FEMALE; GENE DUPLICATION; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HUMANS; MALE; MICROARRAY ANALYSIS; MYELIN PROTEINS; NUCLEIC ACID HYBRIDIZATION; PERIPHERAL NERVOUS SYSTEM DISEASES; PHENOTYPE; POLYMERASE CHAIN REACTION; PROTEIN TYROSINE PHOSPHATASES, NON-RECEPTOR; REPRODUCIBILITY OF RESULTS; SEQUENCE ANALYSIS, DNA;

EID: 77954459206     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-009-5401-2     Document Type: Article

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