The CFTR frameshift mutation 3905insT and its effect at transcript and protein level. (Q34328550)

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6 February 2020

title

The CFTR frameshift mutation 3905insT and its effect at transcript and protein level (English)

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6 February 2020

5

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6 February 2020

author name string

Javier Sanz

1

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6 February 2020

Thomas von Känel

2

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6 February 2020

Mircea Schneider

3

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6 February 2020

Bernhard Steiner

4

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6 February 2020

Sabina Gallati

6

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6 February 2020

publication date

2 September 2009

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European Journal of Human Genetics

6 February 2020

published in

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6 February 2020

volume

18

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6 February 2020

issue

2

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6 February 2020

page(s)

212-217

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6 February 2020

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.

6 July 2018

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Normal function of the cystic fibrosis conductance regulator protein can be associated with homozygous (Delta)F508 mutation

21 January 2018

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27 October 2018

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High morbidity and mortality in cystic fibrosis patients compound heterozygous for 3905insT and deltaF508

27 October 2018

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12 December 2020

Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen Aalpha -chain gene are not associated with the decay of the mutant mRNAs

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12 December 2020

What is cystic fibrosis?

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12 December 2020

The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons

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12 December 2020

Nonsense-associated altered splicing: a frame-dependent response distinct from nonsense-mediated decay

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12 December 2020

Genotype/phenotype association in cystic fibrosis: analyses of the delta F508, R553X, and 3905insT mutations

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12 December 2020

A new mutation, 3905insT, accounts for 4.8% of 1173 CF chromosomes in Switzerland and causes a severe phenotype

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12 December 2020

Genotype-phenotype association in infants with cystic fibrosis at the time of diagnosis

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12 December 2020

Two buffer PAGE system-based SSCP/HD analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease

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12 December 2020

Pulmonary disease severity in men with deltaF508 cystic fibrosis and residual chloride secretion

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12 December 2020

Nonsense mutations in the human beta-globin gene lead to unexpected levels of cytoplasmic mRNA accumulation

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12 December 2020

Identifiers

DOI

10.1038/EJHG.2009.140

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19724303%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19724303%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

PubMed publication ID

19724303

1 reference