Functional and molecular genetic analyses of nine newly identifiedXPD-deficient patients reveal a novel mutation resulting in TTD as well as in XP/CS complex phenotypes-Reference-Cited by-同舟云学术

Functional and molecular genetic analyses of nine newly identifiedXPD-deficient patients reveal a novel mutation resulting in TTD as well as in XP/CS complex phenotypes

Published:2013-06-25 Issue:7 Volume:22 Page:486-489
ISSN:0906-6705
Container-title:Experimental Dermatology
language:en
Short-container-title:Exp Dermatol

Author:

Schäfer Annika¹,Gratchev Alexei²,Seebode Christina¹,Hofmann Lars¹,Schubert Steffen¹,Laspe Petra¹,Apel Antje¹,Ohlenbusch Andreas³,Tzvetkov Mladen⁴,Weishaupt Carsten⁵,Oji Vinzenz⁵,Schön Michael P.¹,Emmert Steffen¹

Affiliation:

1. Department of Dermatology, Venerology and Allergology; University Medical Center Göttingen; Göttingen Germany

2. Department of Dermatology, Venerology and Allergology; University Medical Center Mannheim; Mannheim Germany

3. Department of Pediatrics; University Medical Center Göttingen; Göttingen Germany

4. Department of Clinical Pharmacology; University Medical Center Göttingen; Göttingen Germany

5. Department of Dermatology and Venerology; University Medical Center Münster; Münster Germany

Publisher

Wiley

Subject

Dermatology,Molecular Biology,Biochemistry

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/exd.12166/fullpdf

Reference35 articles.

1. Xeroderma Pigmentosum

2. Xeroderma Pigmentosum, Cockayne Syndrome and Trichothiodystrophy

3. Xeroderma pigmentosum complementation group G patient with a novel homozygous missense mutation and no neurological abnormalities

4. Characterization of tiger tail banding and hair shaft abnormalities in trichothiodystrophy

5. Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: A complex genotype–phenotype relationship

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