Identification of a heterozygous p.Gly568Val missense mutation in the TRPV3 gene in a Japanese patient with Olmsted syndrome: In silico analysis of TRPV3-Reference-Cited by-同舟云学术

Identification of a heterozygous p.Gly568Val missense mutation in the TRPV3 gene in a Japanese patient with Olmsted syndrome: In silico analysis of TRPV3

Published:2017-04-09 Issue:9 Volume:44 Page:1059-1062
ISSN:0385-2407
Container-title:The Journal of Dermatology
language:en
Short-container-title:J Dermatol

Author:

Nagai Hiroshi¹,Takaoka Yutaka²,Sugano Aki²,Nakamachi Yuji³,Kawano Seiji⁴,Nishigori Chikako¹

Affiliation:

1. Division of Dermatology; Department of Internal Related; Kobe University Graduate School of Medicine; Kobe Japan

2. Division of Medical Informatics and Bioinformatics; Kobe University Graduate School of Medicine; Kobe Japan

3. Department of Clinical Laboratory; Kobe University Hospital; Kobe Japan

4. Division of Laboratory Medicine; Department of Internal Related; Kobe University Graduate School of Medicine; Kobe Japan

Publisher

Wiley

Subject

Dermatology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/1346-8138.13844/fullpdf

Reference14 articles.

1. Olmsted syndrome: clinical, molecular and therapeutic aspects;Duchatelet;Orphanet J Rare Dis,2015

2. Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome;Lin;Am J Hum Genet,2012

3. TRPV3: time to decipher a poorly understood family member!;Nilius;J Physiol,2014

4. TRPV3 is a calcium-permeable temperature-sensitive cation channel;Xu;Nature,2002

5. Transient receptor potential channels and dermatological disorders;Valdes-Rodriguez;Curr Top Med Chem,2013

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