(Q44239695)

English

De novo missense mutation in a constitutively expressed exon of the slow alpha-tropomyosin gene TPM3 associated with an atypical, sporadic case of nemaline myopathy

scientific article published in December 2002

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scholarly article

1 reference

Europe PubMed Central

1 December 2017

De novo missense mutation in a constitutively expressed exon of the slow alpha-tropomyosin gene TPM3 associated with an atypical, sporadic case of nemaline myopathy (English)

1 reference

Europe PubMed Central

1 December 2017

Hanns Lochmüller

8

1 reference

Europe PubMed Central

1 December 2017

1 reference

ORCID Public Data File 2021

author name string

Durling HJ

1

1 reference

Europe PubMed Central

1 December 2017

Reilich P

2

1 reference

Europe PubMed Central

1 December 2017

Müller-Höcker J

3

1 reference

Europe PubMed Central

1 December 2017

Mendel B

4

1 reference

Europe PubMed Central

1 December 2017

Pongratz D

5

1 reference

Europe PubMed Central

1 December 2017

Wallgren-Pettersson C

6

1 reference

Europe PubMed Central

1 December 2017

Gunning P

7

1 reference

Europe PubMed Central

1 December 2017

Laing NG

9

1 reference

Europe PubMed Central

1 December 2017

publication date

1 December 2002

1 reference

Europe PubMed Central

1 December 2017

Neuromuscular Disorders

1 reference

Europe PubMed Central

1 December 2017

12

1 reference

Europe PubMed Central

1 December 2017

10

1 reference

Europe PubMed Central

1 December 2017

947-951

1 reference

Europe PubMed Central

1 December 2017

Report of the 83rd ENMC International Workshop: 4th Workshop on Nemaline Myopathy, 22-24 September 2000, Naarden, The Netherlands

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900182-7

7 January 2021

based on heuristic

inferred from DOI database lookup

A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900182-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900182-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900182-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Splicing of two internal and four carboxyl-terminal alternative exons in nonmuscle tropomyosin 5 pre-mRNA is independently regulated during development

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900182-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900182-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900182-7

7 January 2021

based on heuristic

inferred from DOI database lookup

A thermodynamic scale for the helix-forming tendencies of the commonly occurring amino acids

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900182-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900182-7

7 January 2021

based on heuristic

inferred from DOI database lookup

A mutation in alpha-tropomyosin(slow) affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900182-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S0960-8966(02)00182-7

1 reference

Europe PubMed Central

1 December 2017

1 reference

Europe PubMed Central

1 December 2017

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