Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies

Archives of Neurology

Volumn 64, Issue 7, 2007, Pages 974-978

  Li, Jun ^a,b   Ghandour, Khaled ^b   Radovanovic, Danuijola ^c   Shy, Rosemary R ^b   Krajewski, Karen M ^b   Shy, Michael E ^b   Nicholson, Garth A ^c  

^a VETERANS AFFAIRS MEDICAL CENTER   (United States)

^b WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF SYDNEY   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

MUTANT PROTEIN; MYELIN; PERIPHERAL MYELIN PROTEIN 22;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CHROMOSOME DELETION; CHROMOSOME MUTATION; CLINICAL ARTICLE; CLINICAL EXAMINATION; ELECTROPHYSIOLOGY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENETIC DISORDER; HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSY; HETEROZYGOTE; HUMAN; KNOCKOUT MOUSE; MALE; NEUROLOGIC EXAMINATION; NEUROPATHY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEFECT; PROTEIN EXPRESSION; SKIN BIOPSY; STOICHIOMETRY;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHILD; DNA MUTATIONAL ANALYSIS; DOWN-REGULATION; ELECTRODIAGNOSIS; FEMALE; FRAMESHIFT MUTATION; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HEREDODEGENERATIVE DISORDERS, NERVOUS SYSTEM; HUMANS; LEUCINE; MALE; MIDDLE AGED; MYELIN PROTEINS; NEURAL CONDUCTION; PERIPHERAL NERVES; PERIPHERAL NERVOUS SYSTEM DISEASES; PHENOTYPE;

EID: 34447263764     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneur.64.7.974     Document Type: Article

References (15)

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