Mutations in theC7orf11(TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships-Reference-Cited by-同舟云学术

Mutations in theC7orf11(TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships

Published:2007-01 Issue:1 Volume:28 Page:92-96
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Botta Elena,Offman Judith,Nardo Tiziana,Ricotti Roberta,Zambruno Giovanna,Sansone Daniela,Balestri Paolo,Raams Anja,Kleijer Wim J.,Jaspers Nicolaas G.J.,Sarasin Alain,Lehmann Alan R.,Stefanini Miria

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference18 articles.

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2. Trichothiodystrophy without photosensitivity. Biochemical, ultrastructural and DNA repair studies;Fois;Eur J Pediatr,1988

3. Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes;Itin;J Am Acad Dermatol,2001

4. Anti-tumour compounds illudin S and Irofulven induce DNA lesions ignored by global repair and exclusively processed by transcription- and replication-coupled repair pathways;Jaspers;DNA Repair (Amst),2002

5. A rapid procedure for measurement of DNA repair in human fibroblasts and for complementation analysis of xeroderma pigmentosum cells;Lehmann;Mutat Res,1980

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