Mechanism, prevalence, and more severe neuropathy phenotype of the charcot-marie-tooth type 1A triplication

American Journal of Human Genetics

Volumn 94, Issue 3, 2014, Pages 462-469

  Liu, Pengfei ^a   Gelowani, Violet ^a   Zhang, Feng ^b   Drory, Vivian E ^c,d   Ben Shachar, Shay ^c   Roney, Erin ^a   Medeiros, Adam C ^e   Moore, Rebecca J ^e   Divincenzo, Christina ^e   Burnette, William B ^f,g   Higgins, Joseph J ^e   Li, Jun ^f   Orr Urtreger, Avi ^c,d   Lupski, James R ^a,h  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b FUDAN UNIVERSITY   (China)

^c TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^d TEL AVIV UNIVERSITY   (Israel)

^e QUEST DIAGNOSTICS NICHOLS INSTITUTE   (United States)

^f VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^g VANDERBILT UNIVERSITY   (United States)

^h TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHARCOT MARIE TOOTH DISEASE TYPE 1A; CHROMOSOME DUPLICATION; CHROMOSOME SEGREGATION; COMPARATIVE GENOMIC HYBRIDIZATION; DISEASE SEVERITY; DNA FLANKING REGION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE CONVERSION; GENE NUMBER; GENE TRIPLICATION; GENOMIC INSTABILITY; GENOMICS; GENOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HOMOLOGOUS RECOMBINATION; HUMAN; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NONHUMAN; PHENOTYPE; POLYNEUROPATHY; PRIORITY JOURNAL; SISTER CHROMATID; TETRASOMY; WALLERIAN DEGENERATION; ALLELE; CHROMOSOME TRIPLICATION; CLINICAL ARTICLE; COPY NUMBER VARIATION; GENE DOSAGE; GENE MUTATION; GENETIC PREDISPOSITION; HEREDITARY MOTOR SENSORY NEUROPATHY TYPE 1A; MICROSATELLITE MARKER; NEUROPATHY; PERIPHERAL NEUROPATHY; SEGMENTAL DUPLICATION; STRUCTURAL CHROMOSOME ABERRATION;

PERIPHERAL MYELIN PROTEIN 22;

ALLELES; CHARCOT-MARIE-TOOTH DISEASE; DNA COPY NUMBER VARIATIONS; FEMALE; GENE DOSAGE; GENE DUPLICATION; HUMANS; MALE; MICROSATELLITE REPEATS; MUSCULAR ATROPHY; NUCLEIC ACID HYBRIDIZATION; PEDIGREE; PHENOTYPE; POLYNEUROPATHIES; RECOMBINATION, GENETIC;

EID: 84895927879     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.01.017     Document Type: Article

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