(Q34550765)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16865293%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

title

Cockayne syndrome type A: novel mutations in eight typical patients (English)

1 reference

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27 December 2019

1 reference

1

1 reference

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27 December 2019

Chong Ae Kim

7

1 reference

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27 December 2019

author name string

Henian Cao

2

1 reference

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27 December 2019

Lilian M J Albano

3

1 reference

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27 December 2019

Daniela P Oliveira

4

1 reference

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27 December 2019

Fernando Kok

5

1 reference

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27 December 2019

Maria Joaquina Marques-Dias

6

1 reference

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27 December 2019

Robert A Hegele

8

1 reference

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27 December 2019

publication date

25 July 2006

1 reference

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Journal of Human Genetics

27 December 2019

published in

1 reference

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27 December 2019

volume

51

1 reference

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27 December 2019

issue

8

1 reference

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27 December 2019

page(s)

701-705

1 reference

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https://scigraph.springernature.com/pub.10.1007/s10038-006-0011-7

27 December 2019

exact match

0 references

cites work

Nomenclature of human DNA repair genes

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10038-006-0011-7

CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism

21 January 2018

1 reference

12 December 2020

A kindred with Cockayne syndrome caused by multiple splicing variants of the CSA gene.

1 reference

12 December 2020

The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH

1 reference

12 December 2020

Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects

1 reference

12 December 2020

Three novel mutations responsible for Cockayne syndrome group A.

1 reference

12 December 2020