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A novelCIAS1mutation in a Japanese patient with chronic infantile neurological cutaneous and articular syndrome

✍ Scribed by Hidetoshi Takada; Koichi Kusuhara; Akihiko Nomura; Shouichi Ohga; Mikiko Hayashi; Masutaka Furue; Toshiro Hara

Book ID
118297412
Publisher
Springer
Year
2005
Tongue
English
Weight
254 KB
Volume
164
Category
Article
ISSN
0340-6997

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## Abstract Chronic infantile neurologic, cutaneous, articular syndrome (CINCA syndrome) is a severe inflammatory disease that was recently found to be associated with mutations in __CIAS1__. However, __CIAS1__ mutations have been detected in only half of CINCA syndrome patients, and it remains unc

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## Abstract Chronic infantile neurologic, cutaneous, articular (CINCA) syndrome is a severe inflammatory disease that recently was associated with mutations in __CIAS1__. It was hypothesized that these mutations may lead to enhanced inflammatory responses. Herein, we provide evidence that inflammat