Normal expression of myelin protein zero with frame-shift mutation correlates with mild phenotype

Journal of the Peripheral Nervous System

Volumn 11, Issue 1, 2006, Pages 61-66

  Steck, Andreas J ^a   Erne, Beat ^a   Pareyson, Davide ^b   Sghirlanzoni, Angelo ^b   Taroni, Franco ^b   Schaeren Wiemers, Nicole ^a  

^a UNIVERSITY HOSPITAL BASEL   (Switzerland)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

Demyelinating disorder; Mutation; Myelin protein zero; Neuropathy

Indexed keywords

MYELIN BASIC PROTEIN; MYELIN PROTEIN ZERO; PERIPHERAL MYELIN PROTEIN 22; PROTEIN; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; CORRELATION ANALYSIS; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MEDICAL INFORMATICS; MYELIN SHEATH; NERVE BIOPSY; NERVOUS TISSUE; NEUROPATHY; PATIENT; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; QUANTITATIVE ANALYSIS; WESTERN BLOTTING;

ADULT; BIOPSY; BLOTTING, WESTERN; DEMYELINATING DISEASES; FEMALE; FRAMESHIFT MUTATION; HUMANS; IMMUNOHISTOCHEMISTRY; MYELIN P0 PROTEIN; MYELIN PROTEINS; PEDIGREE; PHENOTYPE; SURAL NERVE;

EID: 33644776026     PISSN: 10859489     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1085-9489.2006.00064.x     Document Type: Article

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