(Q56241321)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10533069%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

title

Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10533069%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Smail Hadj-Rabia

3

0 references

Arnold Munnich

4

object named as

Arnold Munnich

0 references

Smail Hadj-rabia

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10533069%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Jean-Paul Bonnefont

5

1 reference

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1 November 2019

author name string

Paule B�nit

1

0 references

Ali Kara-Mostefa

2

0 references

Jean-Paul Bonnefont

5

0 references

Smail Hadj-Rabia

3

0 references

Bénit P

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10533069%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Kara-Mostefa A

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10533069%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Munnich A

4

1 reference

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1 November 2019

publication date

November 1999

0 references

1 January 1999

1 reference

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1 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10533069%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

volume

14

1 reference

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1 November 2019

issue

5

1 reference

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1 November 2019

page(s)

428-432

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10533069%20AND%20SRC:MED&resulttype=core&format=json

9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene

1 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199911%2914%3A5%3C428%3A%3AAID-HUMU9%3E3.0.CO%3B2-5

Identification and characterization of the tuberous sclerosis gene on chromosome 16

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199911%2914%3A5%3C428%3A%3AAID-HUMU9%3E3.0.CO%3B2-5

Phenotypes of the tuberous sclerosis complex with a revision of diagnostic criteria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199911%2914%3A5%3C428%3A%3AAID-HUMU9%3E3.0.CO%3B2-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199911%2914%3A5%3C428%3A%3AAID-HUMU9%3E3.0.CO%3B2-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199911%2914%3A5%3C428%3A%3AAID-HUMU9%3E3.0.CO%3B2-5

Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199911%2914%3A5%3C428%3A%3AAID-HUMU9%3E3.0.CO%3B2-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199911%2914%3A5%3C428%3A%3AAID-HUMU9%3E3.0.CO%3B2-5

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199911%2914%3A5%3C428%3A%3AAID-HUMU9%3E3.0.CO%3B2-5

A mutation screen of the TSC1 gene reveals 26 protein truncating mutations and 1 splice site mutation in a panel of 79 tuberous sclerosis patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199911%2914%3A5%3C428%3A%3AAID-HUMU9%3E3.0.CO%3B2-5

10.1002/(SICI)1098-1004(199911)14:5<428::AID-HUMU9>3.0.CO;2-5

21 January 2018

Identifiers

DOI

0 references

1 reference