(Q48284203)

English

Inactivation of the Fas gene by Alu insertion: retrotransposition in an intron causing splicing variation and autoimmune lymphoproliferative syndrome.

scientific article published in October 2002

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12215906%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Inactivation of the Fas gene by Alu insertion: retrotransposition in an intron causing splicing variation and autoimmune lymphoproliferative syndrome (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12215906%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

autoimmune lymphoproliferative syndrome

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Frédéric Rieux-Laucat

5

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12215906%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Patrick J Tighe

1

1 reference

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12 November 2019

author name string

Stevens SE

2

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Europe PubMed Central

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12 November 2019

Dempsey S

3

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Europe PubMed Central

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12 November 2019

Le Deist F

4

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Europe PubMed Central

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12 November 2019

Edgar JD

6

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12 November 2019

publication date

1 October 2002

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Europe PubMed Central

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12 November 2019

Genes and Immunity

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Europe PubMed Central

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12 November 2019

3 Suppl 1

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12 November 2019

S66-70

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12 November 2019

https://scigraph.springernature.com/pub.10.1038/sj.gene.6363864

0 references

Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity

1 reference

https://api.crossref.org/works/10.1038%2FSJ.GENE.6363864

21 January 2018

Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance

1 reference

https://api.crossref.org/works/10.1038%2FSJ.GENE.6363864

21 January 2018

The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations

1 reference

https://api.crossref.org/works/10.1038%2FSJ.GENE.6363864

21 January 2018

Defective CD95/APO-1/Fas signal complex formation in the human autoimmune lymphoproliferative syndrome, type Ia.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.GENE.6363864

21 January 2018

Fas preassociation required for apoptosis signaling and dominant inhibition by pathogenic mutations

1 reference

https://api.crossref.org/works/10.1038%2FSJ.GENE.6363864

21 January 2018

Spontaneous murine lupus-like syndromes. Clinical and immunopathological manifestations in several strains

1 reference

https://api.crossref.org/works/10.1038%2FSJ.GENE.6363864

21 January 2018

A new allele of the lpr locus, lprcg, that complements the gld gene in induction of lymphadenopathy in the mouse

1 reference

https://api.crossref.org/works/10.1038%2FSJ.GENE.6363864

21 January 2018

Mutations in the Fas antigen gene in lpr mice

1 reference

https://api.crossref.org/works/10.1038%2FSJ.GENE.6363864

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.GENE.6363864

21 January 2018

Alu repeats and human disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.GENE.6363864

21 January 2018

A de novo Alu insertion results in neurofibromatosis type 1

1 reference

https://api.crossref.org/works/10.1038%2FSJ.GENE.6363864

21 January 2018

Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.GENE.6363864

7 January 2021

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