A novel point mutation affecting the tyrosine kinase domain of the nerve growth factor receptor gene, TRKA, in a family with congenital insensitivity to pain with anhidrosis
โ Scribed by Yotsumoto, Shinichi; Setoyama, Mitsuru; Hozumi, Hideki; Fukumaru, Seita; Mizoguchi, Shimako; Kobayashi, Keiko; Saheki, Takeyori; Kanzaki, Tamotsu
- Book ID
- 119562637
- Publisher
- Elsevier Science
- Year
- 1998
- Tongue
- English
- Weight
- 184 KB
- Volume
- 16
- Category
- Article
- ISSN
- 0923-1811
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๐ SIMILAR VOLUMES
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
Congenital insensitivity to pain with anhidrosis is an autosomal recessive hereditary disorder characterized by recurrent episodic fever, anhidrosis (inability to sweat), absence of reaction to noxious stimuli, self-mutilating behavior, and mental retardation. The human TRKA gene (NTRK1), located on