@article{oai:kumadai.repo.nii.ac.jp:00021600,
 author = {Indo, Yasuhiro and 犬童, 康弘 and Mardy, Sek and 三浦, 裕一 and Miura, Yuichi and Endo, Fumio and 松田, 一郎 and Matsuda, Ichiro and Sztriha, László and Frossard, Philippe and Moosa, Allie and Ismail, Essam A.R. and Macaya, Alfons and Andria, Generoso and Toscano, Ennio and Gibson, William and Graham, Gail E. and Indo, Yasuhiro},
 issue = {6},
 journal = {American Journal of Human Genetics},
 month = {Jun},
 note = {application/pdf, 論文(Article), Congenital insensitivity to pain with anhidrosis (CIPA) is characterized by recurrent episodes of unexplained fever, anhidrosis (inability to sweat), absence of reaction to noxious stimuli, self-mutilating behavior, and mental retardation. Human TRKA encodes a high-affinity tyrosine kinase receptor for nerve growth factor (NGF), a member of the neurotrophin family that induces neurite outgrowth and promotes survival of embryonic sensory and sympathetic neurons. We have recently demonstrated that TRKA is responsible for CIPA by identifying three mutations in a region encoding the intracellular tyrosine kinase domain of TRKA in one Ecuadorian and three Japanese families. We have developed a comprehensive strategy to screen for TRKA mutations, on the basis of the gene's structure and organization. Here we report 11 novel mutations, in seven affected families. These are six missense mutations, two frameshift mutations, one nonsense mutation, and two splice-site mutations. Mendelian inheritance of the mutations is confirmed in six families for which parent samples are available. Two mutations are linked, on the same chromosome, to Arg85Ser and to His598Tyr;Gly607Val, hence, they probably represent double and triple mutations. The mutations are distributed in an extracellular domain, involved in NGF binding, as well as the intracellular signal-transduction domain. These data suggest that TRKA defects cause CIPA in various ethnic groups.},
 pages = {1570--1579},
 title = {Congenital Insensitivity to Pain with Anhidrosis: Novel Mutations in the TRKA (NTRK1) Gene Encoding A High Affinity Receptor for Nerve Growth Factor},
 volume = {64},
 year = {1999},
 yomi = {インドウ, ヤスヒロ and ミウラ, ユウイチ and マツダ, イチロウ}
}