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Congenital Insensitivity to Pain with Anhidrosis: Novel Mutations in the TRKA (NTRK1) Gene Encoding A High-Affinity Receptor for Nerve Growth Factor

✍ Scribed by Sek Mardy; Yuichi Miura; Fumio Endo; Ichiro Matsuda; László Sztriha; Philippe Frossard; Allie Moosa; Essam A.R. Ismail; Alfons Macaya; Generoso Andria; Ennio Toscano; William Gibson; Gail E. Graham; Yasuhiro Indo


Book ID
117852858
Publisher
American Society of Human Genetics
Year
1999
Tongue
English
Weight
575 KB
Volume
64
Category
Article
ISSN
0002-9297

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Molecular basis of congenital insensitiv
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Congenital insensitivity to pain with anhidrosis (CIPA), also referred to as hereditary sensory and autonomic neuropathy type IV (HSAN-IV), is an autosomal recessive hereditary disorder characterized by recurrent episodic fever, anhidrosis (inability to sweat), absence of reaction to noxious stimuli

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✍ Angela Greco; Riccardo Villa; Lisa Fusetti; Rosaria Orlandi; Marco A. Pierotti 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 207 KB 👁 2 views

Point mutations affecting the NTRK1/TRKA gene, encoding one of the receptors for the nerve growth factor (NGF), have been detected in congenital insensitivity to pain with anhidrosis (CIPA), a human hereditary sensory neuropathy characterized by absence of reaction to noxious stimuli and anhidrosis.