A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy. (Q54650833)

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English	A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy.	scientific article

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scholarly article

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Europe PubMed Central

PubMed publication ID

2 June 2018

http://europepmc.org/abstract/MED/16075202

A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy. (English)

1 reference

Europe PubMed Central

PubMed publication ID

2 June 2018

http://europepmc.org/abstract/MED/16075202

Ullrich congenital muscular dystrophy

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1 reference

based on heuristic

inferred from title

2

1 reference

Europe PubMed Central

PubMed publication ID

2 June 2018

http://europepmc.org/abstract/MED/16075202

Cecilia Jimenez-Mallebrera

5

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Europe PubMed Central

PubMed publication ID

2 June 2018

http://europepmc.org/abstract/MED/16075202

Guglielmina Pepe

8

1 reference

Europe PubMed Central

PubMed publication ID

2 June 2018

http://europepmc.org/abstract/MED/16075202

author name string

Laura Lucarini

1

1 reference

Europe PubMed Central

PubMed publication ID

2 June 2018

http://europepmc.org/abstract/MED/16075202

Rui-Zhu Zhang

3

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Europe PubMed Central

PubMed publication ID

2 June 2018

http://europepmc.org/abstract/MED/16075202

Te-Cheng Pan

4

1 reference

Europe PubMed Central

PubMed publication ID

2 June 2018

http://europepmc.org/abstract/MED/16075202

Eugenio Mercuri

6

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Europe PubMed Central

PubMed publication ID

2 June 2018

http://europepmc.org/abstract/MED/16075202

Francesco Muntoni

7

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Europe PubMed Central

PubMed publication ID

2 June 2018

http://europepmc.org/abstract/MED/16075202

Mon-Li Chu

9

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Europe PubMed Central

PubMed publication ID

2 June 2018

http://europepmc.org/abstract/MED/16075202

publication date

17 June 2005

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Europe PubMed Central

PubMed publication ID

2 June 2018

http://europepmc.org/abstract/MED/16075202

1 reference

Europe PubMed Central

PubMed publication ID

2 June 2018

http://europepmc.org/abstract/MED/16075202

117

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Europe PubMed Central

PubMed publication ID

2 June 2018

http://europepmc.org/abstract/MED/16075202

5

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Europe PubMed Central

PubMed publication ID

2 June 2018

http://europepmc.org/abstract/MED/16075202

460-466

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Europe PubMed Central

PubMed publication ID

2 June 2018

http://europepmc.org/abstract/MED/16075202

Structure of recombinant N-terminal globule of type VI collagen alpha 3 chain and its binding to heparin and hyaluronan

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https://pubmed.ncbi.nlm.nih.gov/16075202

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recombinant expression and structural and binding properties of alpha 1(VI) and alpha 2(VI) chains of human collagen type VI

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https://pubmed.ncbi.nlm.nih.gov/16075202

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy

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https://pubmed.ncbi.nlm.nih.gov/16075202

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Frameshift mutation in the collagen VI gene causes Ullrich's disease

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https://pubmed.ncbi.nlm.nih.gov/16075202

12 December 2020

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Nonsense-mediated mRNA decay in health and disease

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https://pubmed.ncbi.nlm.nih.gov/16075202

12 December 2020

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Reliable and sensitive detection of premature termination mutations using a protein truncation test designed to overcome problems of nonsense-mediated mRNA instability

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https://pubmed.ncbi.nlm.nih.gov/16075202

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype

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https://pubmed.ncbi.nlm.nih.gov/16075202

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Statistical features of human exons and their flanking regions

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https://pubmed.ncbi.nlm.nih.gov/16075202

12 December 2020

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RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

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https://pubmed.ncbi.nlm.nih.gov/16075202

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ullrich disease: collagen VI deficiency: EM suggests a new basis for muscular weakness

1 reference

https://pubmed.ncbi.nlm.nih.gov/16075202

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI

1 reference

https://pubmed.ncbi.nlm.nih.gov/16075202

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16075202

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/16075202

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-005-1318-8

1 reference

Europe PubMed Central

PubMed publication ID

2 June 2018

http://europepmc.org/abstract/MED/16075202

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 June 2018

http://europepmc.org/abstract/MED/16075202

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