✦ LIBER ✦

065 Xeroderma pigmentosum/Cockayne syndrome group G with severe neurological involvement in infancy

✍ Scribed by D.I. Zafeiriou; A. Andreou; M. Xatjipantelis; W.J. Kleijer; N.G. Jaspers; N. Gombakis; P. Augoustidou-Savvopoulou; G. Katzos

Book ID: 114361035
Publisher: Elsevier Science
Year: 1999
Tongue: English
Weight: 136 KB
Volume: 3
Category: Article
ISSN: 1090-3798
DOI: 10.1016/s1090-3798(99)91141-8

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Heritable genetic alterations in a xerod

Heritable genetic alterations in a xeroderma pigmentosum group G/Cockayne syndrome pedigree

✍ Richard T Okinaka; Ana V Perez-Castro; Anthony Sena; Kevin Laubscher; Gary F Str 📂 Article 📅 1997 🏛 Elsevier Science 🌐 English ⚖ 154 KB

Severe neurological abnormalities associ

Severe neurological abnormalities associated with a mutation in the zinc-finger domain in a group A xeroderma pigmentosum patient

✍ T. MAEDA; K. SATO; H. MINAMI; H. TAGUCHI; K. YOSHIKAWA 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 391 KB

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