Detection of genomic rearrangements by DHPLC: A prospective study of 90 patients with inherited peripheral neuropathies associated with 17p11.2 rearrangements

American Journal of Medical Genetics

Volumn 136 A, Issue 2, 2005, Pages 136-139

  Naïmi, Mourad ^a,b   Tardieu, Sandrine ^a   Depienne, Christel ^a   Ruberg, Merle ^a   Brice, Alexis ^a   Dubourg, Odile ^a   LeGuern, Eric ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b INSERM   (France)

Author keywords

CMT1A; DHPLC; Diagnosis; Gene dosage; HNPP

Indexed keywords

ALLELE; ARTICLE; CHROMOSOME 17P; CHROMOSOME REARRANGEMENT; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; FLUORESCENCE IN SITU HYBRIDIZATION; GEL ELECTROPHORESIS; GENE AMPLIFICATION; GENE DELETION; GENE DOSAGE; GENE DUPLICATION; GENE REARRANGEMENT; HEMIZYGOSITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; NUCLEOTIDE SEQUENCE; PERIPHERAL NEUROPATHY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SOUTHERN BLOTTING;

CHARCOT-MARIE-TOOTH DISEASE; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 17; DNA; GENE DOSAGE; HEREDITARY MOTOR AND SENSORY NEUROPATHIES; HUMANS; MYELIN PROTEINS; PARALYSIS; POLYMERASE CHAIN REACTION; PROSPECTIVE STUDIES; REPRODUCIBILITY OF RESULTS;

EID: 22044445112     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30790     Document Type: Article

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