Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy

Human Genetics

Volumn 97, Issue 5, 1996, Pages 642-649

  Roa, Benjamin B ^a   Greenberg, Frank ^a,b   Gunaratne, Preethi ^a   Sauer, Christine M ^c   Lubinsky, Mark S ^d   Kozma, Chahira ^e   Meck, Jeanne M ^f   Magenis, R Ellen ^g   Shaffer, Lisa G ^a   Lupski, James R ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c CHILDREN S HOSPITAL OF WISCONSIN   (United States)

^d MEDICAL COLLEGE OF WISCONSIN   (United States)

^e GEORGETOWN UNIVERSITY MEDICAL CENTER   (United States)

^f University Medical Center of Groningen   (United States)

^g OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MYELIN PROTEIN;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 17P; CLINICAL FEATURE; CONTROLLED STUDY; CYTOGENETICS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOOT MALFORMATION; GENE DOSAGE; GENE DUPLICATION; HAND MALFORMATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN CELL; IN SITU HYBRIDIZATION; INFANT; MALE; MOTOR NERVE CONDUCTION; MUSCLE ATROPHY; MUSCLE WEAKNESS; NEUROPATHOLOGY; NEWBORN; PARTIAL TRISOMY; PHENOTYPE; PRIORITY JOURNAL; TANDEM REPEAT;

BLOTTING, SOUTHERN; CHARCOT-MARIE-TOOTH DISEASE; CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 17; ELECTROPHYSIOLOGY; FEMALE; GENES, DOMINANT; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MOTOR NEURONS; MULTIGENE FAMILY; MYELIN PROTEINS; NEURAL CONDUCTION; PEDIGREE; PHENOTYPE; SURAL NERVE; TRISOMY;

EID: 13344249760     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050109     Document Type: Article

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