A novel CIAS1mutation in a Japanese patient with chronic infantile neurological cutaneous and articular syndrome.
Takada
Hidetoshi
H
Department of Paediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan. takadah@pediatr.med.kyushu-u.ac.jp
Kusuhara
Koichi
K
Nomura
Akihiko
A
Ohga
Shouichi
S
Hayashi
Mikiko
M
Furue
Masutaka
M
Hara
Toshiro
T
D044466:Asian People / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000150:complications / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D009154:Mutation; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D020752:Neurocutaneous Syndromes / Q000150:complications / Q000235:genetics* / Q000473:pathology; D012867:Skin / Q000473:pathology
D002352:Carrier Proteins; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human