Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis.

Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis.

Item
http://www.wikidata.org/entity/Q40432173
HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship.Mechanisms of nerve growth factor signaling in bone nociceptors and in an animal model of inflammatory bone pain.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.Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotypeHuman genetic disorders of sphingolipid biosynthesis.Novel NTRK1 mutations associated with congenital insensitivity to pain with anhidrosis verified by functional studies.Clinical and genetic analysis of Korean patients with congenital insensitivity to pain with anhidrosis.Molecular Mechanisms That Contribute to Bone Marrow PainIdentification of a novel nonsense mutation of the neurotrophic tyrosine kinase receptor type 1 gene in two siblings with congenital insensitivity to pain with anhidrosis.Novel NTRK1 Frameshift Mutation in Congenital Insensitivity to Pain With Anhidrosis.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.Genetic studies of human neuropathic pain conditions: a review.
P2860

Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis.

Item
http://www.wikidata.org/entity/Q40432173
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh
2008年學術文章
@zh-hant
name
Novel missense, insertion and ...... ivity to pain with anhidrosis.
@en
type
label
Novel missense, insertion and ...... ivity to pain with anhidrosis.
@en
prefLabel
Novel missense, insertion and ...... ivity to pain with anhidrosis.
@en
P1433
P1476
P2093
P304
P31
P356
P433
P478
P577
P698
P921
P356
P1433
P1476
Novel missense, insertion and ...... ivity to pain with anhidrosis.
@en
P2093
P304
P31
P356
P433
P478
P577
P698
P921