The conundrum of xeroderma pigmentosum - A rare disease with frequent complexities

Errol C. Friedberg; Karla A. Henning

doi:10.1016/0027-5107(93)90129-4

The conundrum of xeroderma pigmentosum - A rare disease with frequent complexities

Errol C. Friedberg, Karla A. Henning

Research output: Contribution to journal › Article › peer-review

14 Scopus citations

Abstract

This article examines the genetic and clinical complexity of xeroderma pigmentosum, including the possible genetic for its association with the hereditary diseases. Cockayne syndrome and trichothiodystrophy.

Original language	English (US)
Pages (from-to)	47-53
Number of pages	7
Journal	Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis
Volume	289
Issue number	1
DOIs	https://doi.org/10.1016/0027-5107(93)90129-4
State	Published - Sep 1993

Keywords

Cockayne syndrome
DNA repair
HUman genetics
Hereditary disease
Trichothiodystrophy

ASJC Scopus subject areas

Molecular Biology
Genetics
Health, Toxicology and Mutagenesis

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10.1016/0027-5107(93)90129-4

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title = "The conundrum of xeroderma pigmentosum - A rare disease with frequent complexities",

abstract = "This article examines the genetic and clinical complexity of xeroderma pigmentosum, including the possible genetic for its association with the hereditary diseases. Cockayne syndrome and trichothiodystrophy.",

keywords = "Cockayne syndrome, DNA repair, HUman genetics, Hereditary disease, Trichothiodystrophy",

author = "Friedberg, {Errol C.} and Henning, {Karla A.}",

note = "Funding Information: The work in the authors' laboratory was supported by research grants CA12428 and CA44247 from the United States Public Health Service. We thank our laboratory colleagues for helpful discussions and critical reading of the manuscript. We apologize to numerous colleagues for the abbreviated reference citations imposed by space constraints.",

year = "1993",

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AU - Friedberg, Errol C.

AU - Henning, Karla A.

N1 - Funding Information: The work in the authors' laboratory was supported by research grants CA12428 and CA44247 from the United States Public Health Service. We thank our laboratory colleagues for helpful discussions and critical reading of the manuscript. We apologize to numerous colleagues for the abbreviated reference citations imposed by space constraints.

PY - 1993/9

Y1 - 1993/9

N2 - This article examines the genetic and clinical complexity of xeroderma pigmentosum, including the possible genetic for its association with the hereditary diseases. Cockayne syndrome and trichothiodystrophy.

AB - This article examines the genetic and clinical complexity of xeroderma pigmentosum, including the possible genetic for its association with the hereditary diseases. Cockayne syndrome and trichothiodystrophy.

KW - Cockayne syndrome

KW - DNA repair

KW - HUman genetics

KW - Hereditary disease

KW - Trichothiodystrophy

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JO - Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis

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IS - 1

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The conundrum of xeroderma pigmentosum - A rare disease with frequent complexities

Abstract

Keywords

ASJC Scopus subject areas

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