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A novel mutation of CLCNKB in a Japanese patient of Gitelman-like phenotype with diuretic insensitivity to thiazide administration

✍ Scribed by Ohkubo, Kumiko; Matsuzaki, Tomoe; Yuki, Makiko; Yoshida, Ryoko; Terawaki, Yuichi; Maeyama, Akira; Kawashima, Hironobu; Ono, Junko; Yanase, Toshihiko; Matsunaga, Akira


Book ID
122356857
Publisher
Elsevier
Year
2014
Tongue
English
Weight
496 KB
Volume
2
Category
Article
ISSN
2214-5400

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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