Novel NTRK1 Frameshift Mutation in Congenital Insensitivity to Pain With Anhidrosis.

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Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review.Genetic studies of human neuropathic pain conditions: a review.

P2860

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P2860

Novel NTRK1 Frameshift Mutation in Congenital Insensitivity to Pain With Anhidrosis.

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http://www.wikidata.org/entity/Q51107047

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2014 nî lūn-bûn

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2014年の論文

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2014年学术文章

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2014年学术文章

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2014年学术文章

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2014年学术文章

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Novel NTRK1 Frameshift Mutation in Congenital Insensitivity to Pain With Anhidrosis.

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Novel NTRK1 Frameshift Mutation in Congenital Insensitivity to Pain With Anhidrosis.

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Novel NTRK1 Frameshift Mutation in Congenital Insensitivity to Pain With Anhidrosis.

@en

Novel NTRK1 Frameshift Mutation in Congenital Insensitivity to Pain With Anhidrosis.

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prefLabel

Novel NTRK1 Frameshift Mutation in Congenital Insensitivity to Pain With Anhidrosis.

@en

Novel NTRK1 Frameshift Mutation in Congenital Insensitivity to Pain With Anhidrosis.

@nl

P1476

Novel NTRK1 Frameshift Mutation in Congenital Insensitivity to Pain With Anhidrosis.

@en

P2093

Derek Pavelec

http://www.w3.org/2001/XMLSchema#string

Guixing Qiu

http://www.w3.org/2001/XMLSchema#string

Jiaqi Liu

http://www.w3.org/2001/XMLSchema#string

Jun Chen

http://www.w3.org/2001/XMLSchema#string

Philip Giampietro

http://www.w3.org/2001/XMLSchema#string

Sen Liu

http://www.w3.org/2001/XMLSchema#string

Xinlin Su

http://www.w3.org/2001/XMLSchema#string

Xuan Ming

http://www.w3.org/2001/XMLSchema#string

Ye Tian

http://www.w3.org/2001/XMLSchema#string

Zhihong Wu

http://www.w3.org/2001/XMLSchema#string

P2860

The human chromosomal gene for necdin, a neuronal growth suppressor, in the Prader-Willi syndrome deletion region

Neurotrophin-regulated signalling pathways

Disruption of the paternal necdin gene diminishes TrkA signaling for sensory neuron survival

Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor.

Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli-Bedouins: genetic heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies.

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 mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception.

Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor.

Silent SNPs: impact on gene function and phenotype.

Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis.

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1357-1361

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scholarly article

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10.1177/0883073814552438

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P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

Nan Wu

P577

2014-10-14T00:00:00Z

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P5875

266946008

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P698

25316729

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P921

congenital insensitivity to pain with anhidrosis

Novel NTRK1 Frameshift Mutation in Congenital Insensitivity to Pain With Anhidrosis.

about

P2860

P2860

Novel NTRK1 Frameshift Mutation in Congenital Insensitivity to Pain With Anhidrosis.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P921

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P921