A short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis

BMC Medical Genetics

Volumn 12, Issue , 2011, Pages

  Sarasola, Esther ^a   Rodríguez, Jose A ^b   Garrote, Elisa ^a   Arístegui, Javier ^a   García Barcina, Maria J ^a  

^a HOSPITAL DE BASURTO   (Spain)

^b UNIVERSITY OF THE BASQUE COUNTRY UPV EHU   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; DNA; MESSENGER RNA; NEUROTROPHIC TYROSINE KINASE RECEPTOR 1; PROTEIN TYROSINE KINASE; RNA; UNCLASSIFIED DRUG; PROTEIN TYROSINE KINASE A;

ARTICLE; CASE REPORT; CHILD; CONGENITAL ANALGESIA; CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS; DNA SEQUENCE; EXON; FEMALE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOTE; HUMAN; INTRON; MOLECULAR CLONING; PRESCHOOL CHILD; PSYCHOLOGICAL ASPECT; PSYCHOMOTOR DEVELOPMENT; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; CHEMISTRY; GENETICS; INFANT; NEUROPATHY; NOCICEPTION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PHENOTYPE; PROTEIN TERTIARY STRUCTURE;

BASE SEQUENCE; CHILD; FEMALE; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES; HUMANS; INFANT; INTRONS; PAIN PERCEPTION; PHENOTYPE; PROTEIN STRUCTURE, TERTIARY; RECEPTOR, TRKA; RNA SPLICE SITES; RNA SPLICING; SEQUENCE DELETION;

EID: 79959569898     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-12-86     Document Type: Article

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