A Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV)

Human Mutation

Volumn 38, Issue 1, 2017, Pages 55-63

  Shaikh, Samiha S ^a   Chen, Ya Chun ^a   Halsall, Sally Anne ^b   Nahorski, Michael S ^a   Omoto, Kiyoyuki ^c   Young, Gareth T ^c   Phelan, Anne ^d   Woods, Christopher Geoffrey ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b ADDENBROOKE S HOSPITAL   (United Kingdom)

^c PFIZER GLOBAL RESEARCH AND DEVELOPMENT   (United Kingdom)

^d Stratified Medical   (United Kingdom)

Author keywords

CIPA; neuropathy; NGF; pain; TRKA

Indexed keywords

NERVE GROWTH FACTOR; PHOSPHOLIPASE C GAMMA; PROTEIN TYROSINE KINASE A; HYBRID PROTEIN; PROTEIN BINDING;

ADOLESCENT; ARTICLE; AUTONOMIC NEUROPATHY; AUTOPHOSPHORYLATION; AUTOSOMAL RECESSIVE DISORDER; CELL MEMBRANE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; EMBRYO; ENZYME ACTIVITY; ENZYME GLYCOSYLATION; ENZYME PHOSPHORYLATION; FEMALE; GENETIC ASSOCIATION; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IV; HUMAN; HUMAN CELL; INTRACELLULAR SPACE; MISSENSE MUTATION; NEURITE OUTGROWTH; NEUROPATHOLOGY; PATHOGENICITY; PRIORITY JOURNAL; PROTEIN EXPRESSION; SENSORY NEUROPATHY; SIGNAL TRANSDUCTION; ALLELE; BIOLOGY; CELL LINE; CHEMISTRY; DNA MUTATIONAL ANALYSIS; DNA SEQUENCE; GENE LOCUS; GENE ORDER; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; GLYCOSYLATION; METABOLISM; MOLECULAR IMAGING; NEURITE; NEUROPATHY; PHOSPHORYLATION; PROCEDURES; PROTEIN DOMAIN;

ALLELES; CELL LINE; COMPUTATIONAL BIOLOGY; DNA MUTATIONAL ANALYSIS; GENE ORDER; GENETIC ASSOCIATION STUDIES; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GLYCOSYLATION; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES; HUMANS; MOLECULAR IMAGING; MUTATION, MISSENSE; NEURITES; PHOSPHOLIPASE C GAMMA; PHOSPHORYLATION; PROTEIN BINDING; PROTEIN INTERACTION DOMAINS AND MOTIFS; RECEPTOR, TRKA; RECOMBINANT FUSION PROTEINS; SEQUENCE ANALYSIS, DNA; SIGNAL TRANSDUCTION;

EID: 85002748848     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.23123     Document Type: Article

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