The complete type of pachydermoperiostosis: A novel nonsense mutation p.E141* of the SLCO2A1 gene-Reference-Cited by-同舟云学术

The complete type of pachydermoperiostosis: A novel nonsense mutation p.E141* of the SLCO2A1 gene

Published:2014-09 Issue:3 Volume:75 Page:193-195
ISSN:0923-1811
Container-title:Journal of Dermatological Science
language:en
Short-container-title:Journal of Dermatological Science

Author:

Niizeki H.,Shiohama A.,Sasaki T.,Seki A.,Kabashima K.,Otsuka A.,Kosaki K.,Ogo A.,Yamada T.,Miyasaka M.,Matsuoka K.,Hirakiyama A.,Okuyama T.,Matsuda M.,Nakabayashi K.,Tanese K.,Ishiko A.,Amagai M.,Kudoh J.

Publisher

Elsevier BV

Subject

Dermatology,Molecular Biology,Biochemistry

Reference10 articles.

1. Pachydermoperiostosis: an update;Castori;Clin Genet,2005

2. Un syndrome ostéodermopathique: la pachydermie plicaturée avec pachypé riostose des extrémités;Touraine;Presse Med,1935

3. Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy;Uppal;Nat Genet,2008

4. Identification of mutations in the prostaglandin transporter gene SLCO2A1 and its phenotype-genotype correlation in Japanese patients with pachydermoperiostosis;Sasaki;J Dermatol Sci,2012

5. Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy;Zhang;Am J Hum Genet,2012

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