(Q54740041)

3 June 2018

title

A 34 bp deletion within TSC2 is a rare polymorphism, not a pathogenic mutation. (English)

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3 June 2018

author name string

Penelope S Roberts

1

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3 June 2018

Vijaya Ramesh

2

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3 June 2018

Sandra Dabora

3

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3 June 2018

David J Kwiatkowski

4

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3 June 2018

language of work or name

English

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publication date

1 November 2003

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3 June 2018

published in

Annals of Human Genetics

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3 June 2018

volume

67

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3 June 2018

issue

Pt 6

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3 June 2018

page(s)

495-503

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3 June 2018

Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients

cites work

1 reference

https://api.crossref.org/works/10.1046%2FJ.1529-8817.2003.00059.X

Molecular genetic advances in tuberous sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1529-8817.2003.00059.X

Identification and characterization of the tuberous sclerosis gene on chromosome 16

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1529-8817.2003.00059.X

Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1529-8817.2003.00059.X

Pathological mutations in TSC1 and TSC2 disrupt the interaction between hamartin and tuberin

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1529-8817.2003.00059.X

TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1529-8817.2003.00059.X

Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1529-8817.2003.00059.X

Poor mental development in patients with tuberous sclerosis complex: clinical risk factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1529-8817.2003.00059.X

Tuberous sclerosis: from tubers to mTOR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1529-8817.2003.00059.X

TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1529-8817.2003.00059.X

Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1529-8817.2003.00059.X

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1529-8817.2003.00059.X

Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1529-8817.2003.00059.X

Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test (PTT) identifies frequent splicing defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1529-8817.2003.00059.X

SNP identification, haplotype analysis, and parental origin of mutations in TSC2

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1529-8817.2003.00059.X

10.1046/J.1529-8817.2003.00059.X

21 January 2018

Identifiers

DOI

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3 June 2018

1 reference

3 June 2018