Phenotypic clustering in MPZ mutations

Brain

Volumn 127, Issue 2, 2004, Pages 371-384

  Shy, Michael E ^a,d   Jáni, Agnes ^a   Krajewski, Karen ^a   Grandis, Marina ^a   Lewis, Richard A ^a   Li, Jun ^a   Shy, Rosemary R ^b   Balsamo, Janne ^c   Lilien, Jack ^c   Garbern, James Y ^a   Kamholz, John ^a  

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

^b CHILDREN'S HOSPITAL OF MICHIGAN   (United States)

^c UNIVERSITY OF IOWA   (United States)

^d Elliman Bldg 3206 ^*  (United States)

Author keywords

CMT1B; MPZ; Myelin; Phenotype; PNS

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CLINICAL ARTICLE; DEMYELINATING NEUROPATHY; FAMILY HISTORY; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; NERVE CONDUCTION; NEUROPATHY; ONSET AGE; OPEN READING FRAME; PHENOTYPE; PRIORITY JOURNAL; SCORING SYSTEM;

ADULT; AGE OF ONSET; AGED; AMINO ACID SEQUENCE; CHILD, PRESCHOOL; DEMYELINATING DISEASES; FEMALE; HEREDITARY MOTOR AND SENSORY NEUROPATHIES; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; MYELIN P0 PROTEIN; NEURAL CONDUCTION; OPEN READING FRAMES; PHENOTYPE; PROTEIN STRUCTURE, SECONDARY;

EID: 10744221158     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/awh048     Document Type: Article

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