(Q42664041)

4 November 2017

The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis. (English)

1 reference

4 November 2017

Maheshwar MM

1

1 reference

4 November 2017

Cheadle JP

2

1 reference

4 November 2017

Jones AC

3

1 reference

4 November 2017

Myring J

4

1 reference

4 November 2017

Fryer AE

5

1 reference

4 November 2017

Harris PC

6

1 reference

4 November 2017

Sampson JR

7

1 reference

4 November 2017

1 October 1997

1 reference

4 November 2017

Human Molecular Genetics

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4 November 2017

6

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4 November 2017

1991-1996

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4 November 2017

11

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Two loci for tuberous sclerosis: one on 9q34 and one on 16p13.

4 November 2017

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1991

Identification and characterization of the tuberous sclerosis gene on chromosome 16

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1991

Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1991

Loss of heterozygosity in tuberous sclerosis hamartomas.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1991

Molecular cloning of a GTPase activating protein specific for the Krev-1 protein p21rap1

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1991

Expression and differential splicing of the mouse TSC2 homolog.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1991

cDNA structure, alternative splicing and exon-intron organization of the predisposing tuberous sclerosis (Tsc2) gene of the Eker rat model.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1991

Comparative analysis and genomic structure of the tuberous sclerosis 2 (TSC2) gene in human and pufferfish

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1991

Identification of tuberin, the tuberous sclerosis-2 product. Tuberin possesses specific Rap1GAP activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1991

The tuberous sclerosis 2 gene product, tuberin, functions as a Rab5 GTPase activating protein (GAP) in modulating endocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1991

Proteins regulating Ras and its relatives

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1991

Improved tools for biological sequence comparison

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1991

Mutation analysis of the TSC2 gene in an African-American family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1991

Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1991

Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1991

Phenotypic variation of tuberous sclerosis in a single extended kindred

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1991

Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1991

21 January 2018

Identifiers

DOI

10.1093/HMG/6.11.1991

1 reference

4 November 2017

1 reference