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

โœ Scribed by Tanioka, Miki ;Budiyant, Arief ;Ueda, Takahiro ;Nagano, Tohru ;Ichihashi, Masamitsu ;Miyachi, Yoshiki ;Nishigori, Chikako


Book ID
110733541
Publisher
Nature Publishing Group
Year
2005
Tongue
English
Weight
215 KB
Volume
125
Category
Article
ISSN
0022-202X

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Compound heterozygous group A xeroderma
โœ T. Maeda; K. Sato; T. Tanaka; H. Minami; H. Taguchi; T. Mimaki; K. Yoshikawa ๐Ÿ“‚ Article ๐Ÿ“… 2000 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 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