(Q48603723)

13 February 2018

title

Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex (English)

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13 February 2018

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Toshiyuki Yamamoto

1

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13 February 2018

Judy R Pipo

2

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13 February 2018

Jian-Hua Feng

3

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13 February 2018

Hiromasa Takeda

4

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13 February 2018

Eiji Nanba

5

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13 February 2018

Haruaki Ninomiya

6

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13 February 2018

Kousaku Ohno

7

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13 February 2018

publication date

1 June 2002

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13 February 2018

published in

Brain and Development

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13 February 2018

volume

24

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13 February 2018

issue

4

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13 February 2018

page(s)

227-230

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13 February 2018

Cellular senescence of angiofibroma stroma cells from patients with tuberous sclerosis

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900017-7

7 January 2021

Molecular genetic advances in tuberous sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900017-7

7 January 2021

Identification and characterization of the tuberous sclerosis gene on chromosome 16

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900017-7

7 January 2021

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900017-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900017-7

7 January 2021

Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900017-7

7 January 2021

Novel TSC2 mutation in a patient with pulmonary tuberous sclerosis: lack of loss of heterozygosity in a lung cyst

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900017-7

7 January 2021

Two novel serine repeat length polymorphisms (1043insS and 1043insSS) at exon 23 of the TSC1 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900017-7

7 January 2021

Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900017-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900017-7

7 January 2021

Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900017-7

7 January 2021

A silent mutation induces exon skipping in the phenylalanine hydroxylase gene in phenylketonuria

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900017-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900017-7

7 January 2021

10.1016/S0387-7604(02)00017-7

Identifiers

DOI

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13 February 2018

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13 February 2018