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

Errol C. Friedberg, Karla A. Henning

Research output: Contribution to journalArticle

12 Citations (Scopus)

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 languageEnglish (US)
Pages (from-to)47-53
Number of pages7
JournalMutation Research - Fundamental and Molecular Mechanisms of Mutagenesis
Volume289
Issue number1
DOIs
StatePublished - 1993

Fingerprint

Trichothiodystrophy Syndromes
Cockayne Syndrome
Xeroderma Pigmentosum
Inborn Genetic Diseases
Rare Diseases

Keywords

  • Cockayne syndrome
  • DNA repair
  • Hereditary disease
  • HUman genetics
  • Trichothiodystrophy

ASJC Scopus subject areas

  • Molecular Biology
  • Health, Toxicology and Mutagenesis

Cite this

@article{8418cebce08a49eca79b14c3cd15199c,
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, Hereditary disease, HUman genetics, Trichothiodystrophy",
author = "Friedberg, {Errol C.} and Henning, {Karla A.}",
year = "1993",
doi = "10.1016/0027-5107(93)90129-4",
language = "English (US)",
volume = "289",
pages = "47--53",
journal = "Mutation Research",
issn = "0027-5107",
publisher = "Elsevier",
number = "1",

}

TY - JOUR

T1 - The conundrum of xeroderma pigmentosum - A rare disease with frequent complexities

AU - Friedberg, Errol C.

AU - Henning, Karla A.

PY - 1993

Y1 - 1993

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 - Hereditary disease

KW - HUman genetics

KW - Trichothiodystrophy

UR - http://www.scopus.com/inward/record.url?scp=0027295923&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0027295923&partnerID=8YFLogxK

U2 - 10.1016/0027-5107(93)90129-4

DO - 10.1016/0027-5107(93)90129-4

M3 - Article

VL - 289

SP - 47

EP - 53

JO - Mutation Research

JF - Mutation Research

SN - 0027-5107

IS - 1

ER -