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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

โœ 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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Molecular basis of congenital insensitiv
โœ Yasuhiro Indo ๐Ÿ“‚ Article ๐Ÿ“… 2001 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 303 KB ๐Ÿ‘ 1 views

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 an
โœ Yasuhiro Indo; Sek Mardy; Yuichi Miura; Allie Moosa; Essam A.R. Ismail; Ennio To ๐Ÿ“‚ Article ๐Ÿ“… 2001 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 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