Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: Implications for testing in the cytogenetics laboratory

American Journal of Medical Genetics

Volumn 69, Issue 3, 1997, Pages 325-331

  Shaffer, Lisa G ^a   Kennedy, Gilbert M ^a   Spikes, Aimee S ^b   Lupski, James R ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

Charcot Marie Tooth disease; fluorescence in situ hybridization; hereditary neuropathy with liability to pressure palsies; microdeletion; microduplication; peripheral neuropathies; prenatal diagnosis

Indexed keywords

ARTICLE; CHROMOSOME 17P; GENE LOCUS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN CELL; MUSCLE ATROPHY; MUSCLE WEAKNESS; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

CELL LINE; CHARCOT-MARIE-TOOTH DISEASE; GENE DELETION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTERPHASE; MULTIGENE FAMILY; PERIPHERAL NERVOUS SYSTEM DISEASES;

EID: 0031004203     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970331)69:3<325::AID-AJMG20>3.0.CO;2-S     Document Type: Article

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