(Q40594499)

English

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

scientific article published on October 2001

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scholarly article

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Europe PubMed Central

PubMed publication ID

21 September 2017

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 (English)

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

congenital disorder

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congenital insensitivity to pain with anhidrosis

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author name string

Indo Y

1

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

Mardy S

2

1 reference

Europe PubMed Central

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21 September 2017

Miura Y

3

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

Moosa A

4

1 reference

Europe PubMed Central

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21 September 2017

Ismail EA

5

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

Toscano E

6

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

Andria G

7

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

Pavone V

8

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

Brown DL

9

1 reference

Europe PubMed Central

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21 September 2017

Brooks A

10

1 reference

Europe PubMed Central

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21 September 2017

Endo F

11

1 reference

Europe PubMed Central

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21 September 2017

Matsuda I

12

1 reference

Europe PubMed Central

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21 September 2017

publication date

1 October 2001

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21 September 2017

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Europe PubMed Central

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21 September 2017

18

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21 September 2017

4

1 reference

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21 September 2017

308-318

1 reference

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21 September 2017

Structural and functional properties of the TRK family of neurotrophin receptors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1192

21 January 2018

Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1192

21 January 2018

Functional Interactions of Neurotrophins and Neurotrophin Receptors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1192

21 January 2018

Characterization of single-nucleotide polymorphisms in coding regions of human genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1192

21 January 2018

A novel NTRK1 mutation associated with congenital insensitivity to pain with anhidrosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1192

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1192

21 January 2018

Structure and organization of the human TRKA gene encoding a high affinity receptor for nerve growth factor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1192

21 January 2018

The trk Proto-Oncogene Product: a Signal Transducing Receptor for Nerve Growth Factor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1192

21 January 2018

The trk proto-oncogene encodes a receptor for nerve growth factor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1192

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1192

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1192

21 January 2018

Molecular and biochemical characterization of the human trk proto-oncogene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1192

21 January 2018

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.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1192

21 January 2018

Cloning and chromosomal localization of the human TRK-B tyrosine kinase receptor gene (NTRK2)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1192

21 January 2018

Two brothers with a variant of hereditary sensory neuropathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1192

21 January 2018

Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1192

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1192

21 January 2018

Congenital insensitivity to pain with anhydrosis. A unique syndrome in two male siblings

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1192

21 January 2018

Rapid physical mapping of the human trk protooncogene (NTRK1) to human chromosome 1q21–q22 by P1 clone selection, fluorescence in situ hybridization (FISH), and computer-assisted microscopy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1192

21 January 2018

A novel point mutation affecting the tyrosine kinase domain of the TRKA gene in a family with congenital insensitivity to pain with anhidrosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1192

21 January 2018

The human liver-type pyruvate kinase (PKL) gene is on chromosome 1 at band q21.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1192

21 January 2018

A new genetic concept: uniparental disomy and its potential effect, isodisomy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1192

21 January 2018

Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1192

21 January 2018

Identifiers

10.1002/HUMU.1192

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

release_62xe4y6c4zdsxm66dixl65iqia

1 reference

https://api.fatcat.wiki/v0/release/62xe4y6c4zdsxm66dixl65iqia

24 November 2022

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PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

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