Xeroderma pigmentosum-Cockayne syndrome complex. - Wikidata - wikimedia - TriplyDB

Xeroderma pigmentosum-Cockayne syndrome complex.

Xeroderma pigmentosum-Cockayne syndrome complex.

http://www.wikidata.org/entity/Q37736827

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Repair protein persistence at DNA lesions characterizes XPF defect with Cockayne syndrome features

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Xeroderma pigmentosum-Cockayne syndrome complex.

http://www.wikidata.org/entity/Q37736827

description

article científic

@ca

article scientifique

@fr

articolo scientifico

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artigo científico

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bilimsel makale

@tr

scientific article published on 04 April 2017

@en

vedecký článok

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vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

Xeroderma pigmentosum-Cockayne syndrome complex.

@en

Xeroderma pigmentosum-Cockayne syndrome complex.

@nl

type

label

Xeroderma pigmentosum-Cockayne syndrome complex.

@en

Xeroderma pigmentosum-Cockayne syndrome complex.

@nl

prefLabel

Xeroderma pigmentosum-Cockayne syndrome complex.

@en

Xeroderma pigmentosum-Cockayne syndrome complex.

@nl

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S13023-017-0616-2

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Orphanet Journal of Rare Diseases

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Xeroderma pigmentosum-Cockayne syndrome complex.

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Hayley Raquer

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Valerie Natale

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Creative Commons Attribution 4.0 International

P2860

Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations

Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome

Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease

A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis

Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia

Xeroderma pigmentosum/de sanctis-cacchione syndrome: unusual cause of ataxia.

Cockayne syndrome in adults: review with clinical and pathologic study of a new case.

Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy.

Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy.

Neurological symptoms and natural course of xeroderma pigmentosum.

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scholarly article

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10.1186/S13023-017-0616-2

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1

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xeroderma pigmentosum

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