A novel mutation in the SLCO2A1 gene in a Chinese family with pachydermoperiostosis

被引：2
作者：
Xiao, Jing [1 ]
Zhang, Dong-Dong [1 ]
Zhang, Liang [1 ]
机构：
[1] Huazhong Univ Sci & Technol, Dept Dermatol, Affiliated Wuhan Hosp 1, Wuhan, Hubei, Peoples R China
来源：
AUSTRALASIAN JOURNAL OF DERMATOLOGY | 2019年 / 60卷 / 04期
关键词：
PROSTAGLANDIN TRANSPORTER GENE; IDENTIFICATION;
D O I：
10.1111/ajd.13041
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
引用
收藏
页码：E348 / E350
页数：3
相关论文
共 7 条
[1]   Pachydermoperiostosis: an update [J].
Castori, M ;
Sinibaldi, L ;
Mingarelli, R ;
Lachman, RS ;
Rimoin, DL ;
Dallapiccola, B .
CLINICAL GENETICS, 2005, 68 (06) :477-486
[2]   Identification of mutations in the prostaglandin transporter gene SLCO2A1 and phenotypic comparison between two subtypes of primary hypertrophic osteoarthropathy (PHO): A single-center study [J].
Hou, Yanfang ;
Lin, Yuanyuan ;
Qi, Xuan ;
Yuan, Lu ;
Liao, Ruoxi ;
Pang, Qianqian ;
Cui, Lijia ;
Jiang, Yan ;
Wang, Ou ;
Li, Mei ;
Dong, Jin ;
Xia, Weibo .
BONE, 2018, 106 :96-102
[3]   A novel mutation in the HPGD gene causing primary hypertrophic osteoarthropathy with digital clubbing in a Pakistani family [J].
Khan, Anwar Kamal ;
Muhammad, Noor ;
Khan, Sher Alam ;
Ullah, Waheed ;
Nasir, Abdul ;
Afzal, Sibtain ;
Ramzan, Khushnooda ;
Basit, Sulman ;
Khan, Saadullah .
ANNALS OF HUMAN GENETICS, 2018, 82 (03) :171-176
[4]   Identification of the Mutations in the Prostaglandin Transporter Gene, SLCO2A1 and Clinical Characterization in Korean Patients with Pachydermoperiostosis [J].
Lee, Sihoon ;
Park, So Young ;
Kwon, Hyun Jin ;
Lee, Chul-Ho ;
Kim, Ok-Hwa ;
Rhee, Yumie .
JOURNAL OF KOREAN MEDICAL SCIENCE, 2016, 31 (05) :735-742
[5]   The complete type of pachydermoperiostosis: A novel nonsense mutation p.E141* of the SLC02A1 gene [J].
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. .
JOURNAL OF DERMATOLOGICAL SCIENCE, 2014, 75 (03) :193-195
[6]   Pachydermoperiostosis genetic screening in Lebanese families uncovers a novel SLCO2A1 mutation [J].
Saadeh, D. ;
Kurban, M. ;
Ghosn, S. ;
Btadini, W. ;
Nemer, G. ;
Arayssi, T. ;
Uthman, I. ;
Badra, R. ;
Farra, C. .
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2015, 29 (12) :2489-2490
[7]   Identification of mutations in the prostaglandin transporter gene SLCO2A1 and its phenotype-genotype correlation in Japanese patients with pachydermoperiostosis [J].
Sasaki, Takashi ;
Niizeki, Hironori ;
Shimizu, Atsushi ;
Shiohama, Aiko ;
Hirakiyama, Asami ;
Okuyama, Torayuki ;
Seki, Atsuhito ;
Kabashima, Kenji ;
Otsuka, Atsushi ;
Ishiko, Akira ;
Tanese, Keiji ;
Miyakawa, Shun-ichi ;
Sakabe, Jun-ichi ;
Kuwahara, Masamitsu ;
Amagai, Masayuki ;
Okano, Hideyuki ;
Suematsu, Makoto ;
Kudoh, Jun .
JOURNAL OF DERMATOLOGICAL SCIENCE, 2012, 68 (01) :36-44
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