A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy

Journal of Medical Genetics

Volumn 48, Issue 2, 2011, Pages 131-135

  Carvalho, Ofélia P ^a   Thornton, Gemma K ^a   Hertecant, Joseph ^b   Houlden, Henry ^c   Nicholas, Adeline K ^a   Cox, James J ^a   Rielly, Mary ^c   Al Gazali, Lihadh ^b   Woods, C Geoffrey ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

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

Author keywords

[No Author keywords available]

Indexed keywords

NERVE GROWTH FACTOR; PROTEIN PRECURSOR;

ARTICLE; CELL DIFFERENTIATION; CELL STRAIN; CELL STRAIN COS7; CHILD; FEMALE; GENE MUTATION; GENE OVEREXPRESSION; GENE SEQUENCE; GENETIC LINKAGE; GENETIC TRANSFECTION; GENOTYPE; HSAN5 NEUROPATHY; HUMAN; MALE; NEUROPATHY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; WILD TYPE;

ANIMALS; BASE SEQUENCE; BLOTTING, WESTERN; CERCOPITHECUS AETHIOPS; CHROMOSOME MAPPING; COS CELLS; ENZYME-LINKED IMMUNOSORBENT ASSAY; GENOTYPE; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; NERVE GROWTH FACTOR; PC12 CELLS; PEDIGREE; RATS; RECEPTOR PROTEIN-TYROSINE KINASES; RECEPTOR, TRKA; SEQUENCE ANALYSIS, DNA;

EID: 79551624146     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2010.081455     Document Type: Article

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