Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families.
about
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.A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy.Congenital insensitivity to pain: a case report and review of the literature.Congenital insensitivity to pain with anhydrosis in a Malaysian family: a genetic analysis.Pharmacogenetics of new analgesics.Novel transcripts reveal a complex structure of the human TRKA gene and imply the presence of multiple protein isoforms.Update Review and Clinical Presentation in Congenital Insensitivity to Pain and Anhidrosis.Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohortGenetic mutations that prevent pain: implications for future pain medication.Nature and nurture of human pain.Current evidence for a modulation of low back pain by human genetic variants.Nerve growth factor, pain, itch and inflammation: lessons from congenital insensitivity to pain with anhidrosis.Nerve growth factor and the physiology of pain: lessons from congenital insensitivity to pain with anhidrosis.Exploring Missense Mutations in Tyrosine Kinases Implicated with Neurodegeneration.Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronic NTRK1-mutation due to uniparental disomy.Novel NTRK1 mutations associated with congenital insensitivity to pain with anhidrosis verified by functional studies.Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency.Identification of a novel nonsense mutation of the neurotrophic tyrosine kinase receptor type 1 gene in two siblings with congenital insensitivity to pain with anhidrosis.Congenital insensitivity to pain with anhidrosis in an Iranian patient.No mutation in the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with hereditary sensory and autonomic neuropathy type V.Atypical hereditary sensory and autonomic neuropathy type IV with neither mental retardation nor pain insensitivity.Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review.Novel neurotrophic tyrosine kinase receptor type 1 gene mutation associated with congenital insensitivity to pain with anhidrosis.Novel NTRK1 mutations in Chinese patients with congenital insensitivity to pain with anhidrosis.A novel NTRK1 mutation in a patient with congenital insensitivity to pain with anhidrosis.Genetic studies of human neuropathic pain conditions: a review.
P2860
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P2860
Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families.
description
2000 nî lūn-bûn
@nan
2000年の論文
@ja
2000年学术文章
@wuu
2000年学术文章
@zh
2000年学术文章
@zh-cn
2000年学术文章
@zh-hans
2000年学术文章
@zh-my
2000年学术文章
@zh-sg
2000年學術文章
@yue
2000年學術文章
@zh-hant
name
Mutation and polymorphism anal ...... th anhidrosis (CIPA) families.
@en
Mutation and polymorphism analysis of the TRKA
@nl
type
label
Mutation and polymorphism anal ...... th anhidrosis (CIPA) families.
@en
Mutation and polymorphism analysis of the TRKA
@nl
prefLabel
Mutation and polymorphism anal ...... th anhidrosis (CIPA) families.
@en
Mutation and polymorphism analysis of the TRKA
@nl
P2093
P356
P1433
P1476
Mutation and polymorphism anal ...... th anhidrosis (CIPA) families.
@en
P2093
P304
P356
10.1007/S004390051018
P577
2000-01-01T00:00:00Z