Rapid detection of 17p11.2 rearrangements by FISH without cell culture(direct FISH, DFISH): A prospective study of 130 patients with inherited peripheral neuropathies

American Journal of Medical Genetics

Volumn 118 A, Issue 1, 2003, Pages 43-48

  Ravisé, Nicole ^a   Dubourg, Odile ^a   Tardieu, Sandrine ^a   Aurias, Françoise ^a   Mercadiel, Monique ^a   Coullin, Philippe ^b   Ruberg, Merle ^a   Catala, Martin ^a   Lesourd, Sylvie ^a   Brice, Alexis ^a   LeGuern, Eric ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b INSTITUT GUSTAVE ROUSSY   (France)

Author keywords

Aneusomy; Charcot Marie Tooth; Diagnosis; FISH; Hereditary neuropathy with liability to pressure palsies; PRINS

Indexed keywords

MYELIN PROTEIN; PERIPHERAL MYELIN PROTEIN 22; UNCLASSIFIED DRUG;

ARTICLE; CELL CULTURE; CHROMOSOME 17P; CHROMOSOME REARRANGEMENT; CLINICAL PRACTICE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DELETION; GENE DOSAGE; GENE DUPLICATION; GENE REARRANGEMENT; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MAJOR CLINICAL STUDY; MOTOR NEUROPATHY; MUSCLE ATROPHY; MUSCLE WEAKNESS; PARALYSIS; PERIPHERAL NEUROPATHY; PHENOTYPE; PMP22 GENE; PRIORITY JOURNAL; SENSORY NEUROPATHY; SOUTHERN BLOTTING;

EID: 0042320931     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.10190     Document Type: Article

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