Xeroderma Pigmentosum-Trichothiodystrophy overlap patient with novel XPD/ERCC2 mutation

Xeroderma Pigmentosum (XP), Trichothiodystrophy (TTD) and Cockayne Syndrome (CS) are rare, recessive disorders caused by mutational defects in the Nucleotide Excision Repair (NER) pathway and/or disruption of basic cellular DNA transcription. To date, a multitude of mutations in the XPD/ERCC2 gene h...

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Autors principals: Kralund, Henrik H., Ousager, Lilian, Jaspers, Nicolaas G., Raams, Anja, Pedersen, Erling B., Gade, Else, Bygum, Anette
Format: Artigo
Idioma:Inglês
Publicat: Landes Bioscience 2013
Matèries:
Short Communication
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3916142/
https://ncbi.nlm.nih.gov/pubmed/25002996
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4161/rdis.24932
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