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Convulsive episodes in patients with group A xeroderma pigmentosum

✍ Scribed by J. Kohyama; W. Furushima; Y. Sugawara; M. Shimohira; T. Hasegawa; M. Hayashi; S. Moriwaki; Y. Iwakawa


Book ID
109337270
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
256 KB
Volume
112
Category
Article
ISSN
0001-6314

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Compound heterozygous group A xeroderma
✍ T. Maeda; K. Sato; T. Tanaka; H. Minami; H. Taguchi; T. Mimaki; K. Yoshikawa πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 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