A red cell pyruvate kinase mutant with normal L-type PK in the liver

Congenital insensitivity to pain with an

Congenital insensitivity to pain with anhidrosis (CIPA): Novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency

✍ Yasuhiro Indo; Sek Mardy; Yuichi Miura; Allie Moosa; Essam A.R. Ismail; Ennio To 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 477 KB

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