(Q52008421)

19 April 2018

title

Genetic analysis of twenty-two patients with Cockayne syndrome. (English)

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19 April 2018

author name string

M Stefanini

1

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19 April 2018

H Fawcett

2

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19 April 2018

E Botta

3

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19 April 2018

T Nardo

4

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19 April 2018

A R Lehmann

5

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19 April 2018

publication date

1 April 1996

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19 April 2018

published in

Human Genetics

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19 April 2018

volume

97

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19 April 2018

issue

4

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19 April 2018

page(s)

418-423

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19 April 2018

Nomenclature of human DNA repair genes

cites work

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12 December 2020

Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy.

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12 December 2020

DNA repair investigations in nine Italian patients affected by trichothiodystrophy.

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12 December 2020

Cockayne syndrome: Review of 140 cases

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12 December 2020

Prenatal diagnosis of Cockayne's syndrome

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12 December 2020

DNA repair. Engagement with transcription

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12 December 2020

Cockayne syndrome in two adult siblings

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12 December 2020

ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes

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12 December 2020

Xeroderma pigmentosum complementation group H falls into complementation group D

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12 December 2020

Three complementation groups in Cockayne syndrome

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12 December 2020

Xeroderma pigmentosum complementation group G associated with Cockayne syndrome

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12 December 2020

Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity.

1 reference

12 December 2020

Prenatal diagnosis of xeroderma pigmentosum and Cockayne syndrome.

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12 December 2020

The molecular basis of nucleotide excision repair syndromes

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12 December 2020

Cockayne's syndrome: correlation of clinical features with cellular sensitivity of RNA synthesis to UV irradiation

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12 December 2020

Molecular cloning of the human DNA excision repair gene ERCC-6

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12 December 2020

Deficient repair of the transcribed strand of active genes in Cockayne's syndrome cells

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12 December 2020

Escherichia coli mfd mutant deficient in "mutation frequency decline" lacks strand-specific repair: in vitro complementation with purified coupling factor

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12 December 2020

Repair and transcription. Collision or collusion?

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12 December 2020

Complementation studies in cells from patients affected by trichothiodystrophy with normal or enhanced UV photosensitivity

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12 December 2020

The genetic defect in Cockayne syndrome is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA.

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12 December 2020

Genetic complementation groups in Cockayne syndrome

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12 December 2020

Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3

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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

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12 December 2020

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

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12 December 2020

Molecular mechanism of transcription-repair coupling.

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12 December 2020

Identifiers

DOI

10.1007/S004390050065

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19 April 2018

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19 April 2018