A novel RAB7 mutation associated with ulcero-mutilating neuropathy

Annals of Neurology

Volumn 56, Issue 4, 2004, Pages 586-590

  Houlden, Henry ^a,b,c   King, Rosalind H M ^a   Muddle, John R ^b   Warner, Thomas T ^a,b   Reilly, Mary M ^c   Orrell, Richard W ^a,b   Ginsberg, Lionel ^a,b  

^a ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^b ROYAL FREE HOSPITAL   (United Kingdom)

^c NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARAGINE; METHIONINE; RAB7 PROTEIN; THREONINE; VALINE;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; CARBOXY TERMINAL SEQUENCE; CLINICAL FEATURE; CODON; CONTROLLED STUDY; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HUMAN; HUMAN TISSUE; MALE; NERVE BIOPSY; NERVE CONDUCTION; NEUROPATHY; PRIORITY JOURNAL; PROTEIN INTERACTION; SURAL NERVE; ULCER;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; AMINO ACID SEQUENCE; ANIMALS; ASPARAGINE; BIOPSY; CARRIER PROTEINS; CHARCOT-MARIE-TOOTH DISEASE; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FUNCTIONAL LATERALITY; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MIDDLE AGED; MUTATION; NEURAL CONDUCTION; RAB GTP-BINDING PROTEINS; STAINING AND LABELING; SURAL NERVE; THREONINE;

EID: 4844231295     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.20281     Document Type: Article

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