Clinical, Cellular, and Molecular Features of an Israeli Xeroderma Pigmentosum Family with a Frameshift Mutation in the XPC Gene: Sun Protection Prolongs Life-Reference-Cited by-同舟云学术

Clinical, Cellular, and Molecular Features of an Israeli Xeroderma Pigmentosum Family with a Frameshift Mutation in the XPC Gene: Sun Protection Prolongs Life

Published:2000-12 Issue:6 Volume:115 Page:974-980
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Slor Hanoch,Batko Sima,Khan Sikandar G.,Sobe Tama,Emmert Steffen,Khadavi Arash,Frumkin Azriel,Busch David B.,Albert Roberta B.,Kraemer Kenneth H.

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference27 articles.

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4. Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels;Chavanne;Cancer Res,2000

5. A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy;Cleaver;Hum Mutat,1999

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2. Patients with xeroderma pigmentosum complementation groups C, E and V do not have abnormal sunburn reactions;British Journal of Dermatology;2013-12

3. Clinical utility gene card for: Xeroderma pigmentosum;European Journal of Human Genetics;2013-10-09

4. Skin Cancer;Emery and Rimoin's Principles and Practice of Medical Genetics;2013

5. A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity;Environmental and Molecular Mutagenesis;2012-07-23