(Q45185112)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15595939%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

title

Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15595939%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

1 reference

1

1 reference

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6 January 2020

Anil Kumar Shukla

4

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6 January 2020

author name string

Girimaji SC

2

1 reference

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6 January 2020

Markandaya M

3

1 reference

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6 January 2020

Sacchidanand S

5

1 reference

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6 January 2020

Kumar A

6

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6 January 2020

language of work or name

English

0 references

publication date

1 January 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15595939%20AND%20SRC:MED&resulttype=core&format=json

Acta Neurologica Scandinavica

6 January 2020

published in

1 reference

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6 January 2020

volume

111

1 reference

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6 January 2020

issue

1

1 reference

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6 January 2020

page(s)

54-63

1 reference

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Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

6 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2004.00366.X

Identification and characterization of the tuberous sclerosis gene on chromosome 16

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2004.00366.X

Tumour suppressors hamartin and tuberin: intracellular signalling

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2004.00366.X

Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2004.00366.X

The TSC1 tumour suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2004.00366.X

Molecular genetic advances in tuberous sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2004.00366.X

A calmodulin binding site in the tuberous sclerosis 2 gene product is essential for regulation of transcription events and is altered by mutations linked to tuberous sclerosis and lymphangioleiomyomatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2004.00366.X

The hunchback and its neighbours: proline as an environmental modulator

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2004.00366.X

Improvements in a secondary structure prediction method based on a search for local sequence homologies and its use as a model building tool

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2004.00366.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/10.1111%2FJ.1600-0404.2004.00366.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/10.1111%2FJ.1600-0404.2004.00366.X

10.1111/J.1600-0404.2004.00366.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15595939%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

1 reference