(Q52041031)

20 April 2018

title

Prenatal diagnosis in a subset of trichothiodystrophy patients defective in DNA repair (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1281671

8 September 2022

1 reference

1 reference

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8 September 2022

author name string

Blanchet-Bardon C

2

1 reference

20 April 2018

A. Sarasin

1

1 reference

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8 September 2022

C. Blanchet-Bardon

2

1 reference

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8 September 2022

G. Renault

3

1 reference

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8 September 2022

A. Lehmann

4

1 reference

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8 September 2022

C. Arlett

5

1 reference

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8 September 2022

Y. Dumez

6

1 reference

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8 September 2022

language of work or name

English

0 references

publication date

1 November 1992

1 reference

20 April 2018

British Journal of Dermatology

published in

1 reference

20 April 2018

volume

127

1 reference

20 April 2018

page(s)

485-491

1 reference

20 April 2018

issue

5

1 reference

20 April 2018

Trichothiodystrophy: sulfur-deficient brittle hair as a marker for a neuroectodermal symptom complex.

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1111%2FJ.1365-2133.1992.TB14845.X

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1111%2FJ.1365-2133.1992.TB14845.X

Relationship between pyrimidine dimers, 6-4 photoproducts, repair synthesis and cell survival: studies using cells from patients with trichothiodystrophy

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1111%2FJ.1365-2133.1992.TB14845.X

10.1111/J.1365-2133.1992.TB14845.X

21 January 2018

Identifiers

DOI

1 reference

20 April 2018

1 reference

20 April 2018