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Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis

โœ Scribed by Kathrin Huehne; Christiane Zweier; Klaus Raab; Sylvie Odent; Martine Bonnaure-Mallet; Jean-louis Sixou; Pierre Landrieu; Cyril Goizet; Jean Sarlangue; Matthias Baumann; Thomas Eggermann; Anita Rauch; Sinje Ruppert; Georg M. Stettner; Bernd Rautenstrauss


Book ID
116793346
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
468 KB
Volume
18
Category
Article
ISSN
0960-8966

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Congenital insensitivity to pain with anhidrosis (CIPA), also called hereditary sensory and autonomic neuropathy type IV (HSAN IV), is caused by mutations of the NTRK1 gene coding for the neurotrophic tyrosine kinase receptor type 1. We report the results of the NTRK1 sequence analysis in a CIPA fam

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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