(Q24681838)

2

0 references

A Tempelaars

3

0 references

L Bakker

4

0 references

Q Wang

5

0 references

M Wessels

6

0 references

R Bakker

7

0 references

M Nellist

8

0 references

D Lindhout

9

0 references

D Halley

10

0 references

A van den Ouweland

Journal of Medical Genetics

11

0 references

language of work or name

English

0 references

publication date

April 1999

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published in

0 references

volume

36

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page(s)

285-9

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issue

4

0 references

cites work

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

7 April 2017

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A simple salting out procedure for extracting DNA from human nucleated cells

7 April 2017

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Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis

7 April 2017

1 reference

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Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

7 April 2017

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Evidence that the gene for tuberous sclerosis is on chromosome 9

7 April 2017

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Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

7 April 2017

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Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease

7 April 2017

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

7 April 2017

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Transgenic rescue from embryonic lethality and renal carcinogenesis in the Eker rat model by introduction of a wild-type Tsc2 gene

28 September 2017

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

28 September 2017

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

28 September 2017

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Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions

28 September 2017

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An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes.

28 September 2017

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Refined localization of TSC1 by combined analysis of 9q34 and 16p13 data in 14 tuberous sclerosis families

28 September 2017

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

28 September 2017

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

28 September 2017

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Genetic aspects of tuberous sclerosis in the west of Scotland

28 September 2017

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28 September 2017

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Mutations and polymorphisms in the tuberous sclerosis complex gene on chromosome 16.

30 May 2018

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

30 May 2018

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Identification of a large insertion and two novel point mutations (3671del8 and S1221X) in tuberous sclerosis complex (TSC) patients. Mutations in brief no. 119. Online.

30 May 2018

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

28 November 2018

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Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients.

28 November 2018

1 reference

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

28 November 2018

1 reference

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A de novo frame-shift mutation in the tuberin gene

28 November 2018

1 reference

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Epidemiology of tuberous sclerosis

28 November 2018

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12 December 2020

Ten base pair duplication in exon 38 of the NF1 gene

1 reference

12 December 2020

Somatic mosaicism and clinical variation in tuberous sclerosis complex

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12 December 2020

A novel splice site mutation (156 + 1G-->A) in the TSC2 gene

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12 December 2020