Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway. (Q40501657)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15496423%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

title

Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway (English)

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4 January 2020

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1

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4 January 2020

Anders D. Børglum

4

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4 January 2020

author name string

Hans Joenje

2

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4 January 2020

Raymonda Varon

3

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4 January 2020

Penny A Jeggo

5

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4 January 2020

Mark O'Driscoll

6

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publication date

20 October 2004

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4 January 2020

published in

Human Molecular Genetics

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4 January 2020

volume

13

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issue

24

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4 January 2020

page(s)

3127-3138

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describes a project that uses

4 January 2020

DK0064

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A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome

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Normal expression of the Fanconi anemia proteins FAA and FAC and sensitivity to mitomycin C in two patients with Seckel syndrome.

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A new locus for Seckel syndrome on chromosome 18p11.31-q11.2.

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Is the novel SCKL3 at 14q23 the predominant Seckel locus?

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