Charcot-Marie-Tooth phenotype produced by a duplicated PMP22 gene as part of a 17p trisomy-translocation to the X chromosome

Clinical Genetics

Volumn 54, Issue 5, 1998, Pages 413-416

  King, P H ^a,c   Waldrop, R ^a   Lupski, J R ^b   Shatter, L G ^b  

^a The University of Alabama at Birmingham   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c 1235 Jefferson Tower ^*  (United States)

Author keywords

Charcot Marie Tooth neuropathy; Gene dosage effect; PMP22 gene; Trisomy 17p

Indexed keywords

MYELIN PROTEIN;

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 17P; CHROMOSOME TRANSLOCATION 17; CHROMOSOME TRANSLOCATION X; CLINICAL FEATURE; ELECTROPHYSIOLOGY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DOSAGE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; PHENOTYPE; PRIORITY JOURNAL; TANDEM REPEAT; TRISOMY;

EID: 0031795340     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1998.tb03755.x     Document Type: Article

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