✦ LIBER ✦

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

✍ Scribed by Shinichi Moriwaki; Masahiro Takigawa; Naoya Igarashi; Yayoi Nagai; Hiroo Amano; Osamu Ishikawa; Sikandar G. Khan; Kenneth H. Kraemer

Book ID: 111245029
Publisher: John Wiley and Sons
Year: 2012
Tongue: English
Weight: 455 KB
Volume: 21
Category: Article
ISSN: 0906-6705
DOI: 10.1111/j.1600-0625.2012.01446.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

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

Compound heterozygous group A xeroderma

Compound heterozygous group A xeroderma pigmentosum patient with a novel mutation and an inherited reciprocal translocation

✍ T. Maeda; K. Sato; T. Tanaka; H. Minami; H. Taguchi; T. Mimaki; K. Yoshikawa 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 360 KB

The severity of neurological abnormalities in Japanese group A xeroderma pigmentosum (XP-A) patients correlates with the sites of non-sense mutation in the XP-A gene. We describe a patient who presented with a more severe photosensitivity and neurological abnormality than those in typical Japanese X

A Novel XPA Gene Mutation and its Functi

A Novel XPA Gene Mutation and its Functional Analysis in a Japanese Patient with Xeroderma Pigmentosum Group A

✍ Tanioka, Miki ;Budiyant, Arief ;Ueda, Takahiro ;Nagano, Tohru ;Ichihashi, Masami 📂 Article 📅 2005 🏛 Nature Publishing Group 🌐 English ⚖ 215 KB

Strict sun protection results in minimal

Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2)

✍ Steffen Emmert; Takahiro Ueda; Urs Zumsteg; Peter Weber; Sikandar G. Khan; Kyu-S 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 201 KB