Novel frameshift and splice site mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with hereditary sensory neuropathy type IV
β Scribed by Verpoorten, Nathalie (author);Claeys, Kristl G. (author);Deprez, Liesbet (author);Jacobs, An (author);Gerwen, Veerle Van (author);Lagae, Lieven (author);Arts, Willem Frans (author);Meirleir, Linda De (author);Keymolen, Kathelijn (author);Groote, Chantal Ceuterick De (author);Jonghe, Peter De (author);Timmerman, Vincent (author);Nelis, Eva (author)
- Book ID
- 116792389
- Publisher
- Elsevier Science
- Year
- 2006
- Tongue
- English
- Weight
- 345 KB
- Volume
- 16
- Category
- Article
- ISSN
- 0960-8966
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π SIMILAR VOLUMES
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