𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Xeroderma pigmentosum und verwandte Syndrome

✍ Scribed by M. Berneburg; J. Krutmann

Publisher
Springer
Year
2003
Tongue
German
Weight
406 KB
Volume
54
Category
Article
ISSN
0017-8470

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A summary of mutations in the UV-sensiti
A summary of mutations in the UV-sensitive disorders: Xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy
✍ James E. Cleaver; Larry H. Thompson; Audrey S. Richardson; J. Christopher States 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 393 KB 👁 1 views

The human diseases xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy are caused by mutations in a set of interacting gene products, which carry out the process of nucleotide excision repair. The majority of the genes have now been cloned and many mutations in the genes identified. Th

Phenotypic heterogeneity in the XPB DNA
Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome
✍ Kyu-Seon Oh; Sikandar G. Khan; N.G.J. Jaspers; Anja Raams; Takahiro Ueda; Alan L 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 417 KB

Defects in the xeroderma pigmentosum type B (XPB) gene (ERCC3), a DNA helicase involved in nucleotide excision repair (NER) and an essential subunit of the basal transcription factor, TFIIH, have been described in only three families. We report three new XPB families: one has two sisters with relati