(Q58006400)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12379465%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

title

An unusual mutation in RECQ4 gene leading to Rothmund-Thomson syndrome (English)

1 reference

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13 December 2019

2

1 reference

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13 December 2019

Alessandro Beghini

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12379465%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

author name string

Pauline Balraj

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12379465%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

Rahman Jamal

3

1 reference

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13 December 2019

Alan Soobeng Khoo

6

1 reference

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13 December 2019

Ludovica Volpi

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12379465%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

T S Hoe

5

1 reference

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13 December 2019

language of work or name

English

0 references

publication date

1 October 2002

1 reference

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13 December 2019

1 reference

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13 December 2019

volume

508

1 reference

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13 December 2019

issue

1-2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12379465%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

page(s)

99-105

1 reference

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Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome

13 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900189-6

Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900189-6

Chromosomal instability in fibroblasts and mesenchymal tumors from 2 sibs with Rothmund-Thomson syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900189-6

Rothmund-thomson syndrome responsible gene, RECQL4: genomic structure and products

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900189-6

Cloning, genomic structure and chromosomal localization of the gene encoding mouse DNA helicase RECQL5beta.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900189-6

A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900189-6

Intron-exon structures of eukaryotic model organisms

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900189-6

A new type of mutation causes a splicing defect in ATM.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900189-6

10.1016/S0027-5107(02)00189-6

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12379465%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

1 reference