Novel mutation of the P0 extracellular domain causes a Déjérine-Sottas syndrome

Journal of Neurology Neurosurgery and Psychiatry

Volumn 66, Issue 3, 1999, Pages 386-389

  Fabrizi, Gian Maria ^a   Cavallaro, Tiziana ^a   Morbin, Michela ^a   Simonati, Alessandro ^a   Taioli, Federica ^a   Rizzuto, Nicolo' ^a  

^a UNIVERSITY OF VERONA   (Italy)

Author keywords

D j rine Sottas syndrome; Myelin; P0

Indexed keywords

MYELIN PROTEIN; CYSTINE; IMMUNOGLOBULIN; STRUCTURAL PROTEIN; TETRAMER; TYROSINE;

ADULT; ARTICLE; CASE REPORT; GENETICS; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE DETECTION; HUMAN; MALE; MUTATION; PATHOLOGY; PULSED FIELD GEL ELECTROPHORESIS; SYNDROME; AMINO ACID SEQUENCE; CELL MEMBRANE; DEMYELINATING NEUROPATHY; DISULFIDE BOND; HETEROZYGOSITY; HISTOPATHOLOGY; MOLECULAR INTERACTION; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN QUATERNARY STRUCTURE; SCHWANN CELL;

ADULT; ELECTROPHORESIS, GEL, PULSED-FIELD; HEREDITARY MOTOR AND SENSORY NEUROPATHIES; HETEROZYGOTE DETECTION; HUMANS; MALE; MUTATION; MYELIN P0 PROTEIN; SYNDROME;

EID: 0032588106     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.66.3.386     Document Type: Article

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