(Q52088534)

21 April 2018

title

Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts. (English)

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21 April 2018

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21 April 2018

Vilma-Lotta Lehtokari

object named as

Vilma-Lotta Lehtokari

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Katarina Pelin

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Maria Sandbacka

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21 April 2018

Carina Wallgren-Pettersson

series ordinal

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21 April 2018

publication date

1 September 2004

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21 April 2018

European Journal of Human Genetics

published in

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21 April 2018

volume

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21 April 2018

issue

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21 April 2018

page(s)

744-751

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21 April 2018

Correlation Between Conformational and Binding Properties of Nebulin Repeats

cites work

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201242

7 January 2021

Myopalladin, a novel 145-kilodalton sarcomeric protein with multiple roles in Z-disc and I-band protein assemblies

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201242

7 January 2021

The SH3 domain of nebulin binds selectively to type II peptides: theoretical prediction and experimental validation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201242

7 January 2021

Molecular dissection of the interaction of desmin with the C-terminal region of nebulin

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201242

7 January 2021

Characterization of nebulette and nebulin and emerging concepts of their roles for vertebrate Z-discs

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201242

7 January 2021

The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201242

7 January 2021

Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201242

7 January 2021

The N-terminal end of nebulin interacts with tropomodulin at the pointed ends of the thin filaments.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201242

7 January 2021

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201242

7 January 2021

Nebulin mutations in autosomal recessive nemaline myopathy: an update

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201242

7 January 2021

Mutations in the nebulin gene can cause severe congenital nemaline myopathy.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201242

7 January 2021

Abnormalities in the expression of nebulin in chromosome-2 linked nemaline myopathy.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201242

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201242

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201242

7 January 2021

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/10.1038%2FSJ.EJHG.5201242

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201242

7 January 2021

A novel nemaline myopathy in the Amish caused by a mutation in troponin T1

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201242

7 January 2021

The complete mouse nebulin gene sequence and the identification of cardiac nebulin

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201242

7 January 2021

Basic local alignment search tool

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201242

7 January 2021

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201242

7 January 2021

BCM Search Launcher--an integrated interface to molecular biology data base search and analysis services available on the World Wide Web.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201242

7 January 2021

Myogenesis in the mouse embryo: differential onset of expression of myogenic proteins and the involvement of titin in myofibril assembly

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201242

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201242

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21 April 2018

Dimensions Publication ID

1025929286

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21 April 2018