Novel mutations in the cartilage oligomeric matrix protein gene identified in two Taiwanese patients with pseudoachondroplasia and multiple epiphyseal dysplasia

被引：2

作者：

Lin, Wei-De ^{[1
,2
]}

Chou, I-Ching ^{[3
,4
]}

Wang, Chung-Hsing ^{[5
,6
]}

Tsai, Fuu-Jen ^{[1
,4
,7
,8
,9
]}

机构：

[1] China Med Univ Hosp, Dept Med Res, Taichung, Taiwan

[2] China Med Univ, Sch Post Baccalaureate Chinese Med, Taichung, Taiwan

[3] China Med Univ, Childrens Hosp, Div Pediat Neurol, Taichung, Taiwan

[4] China Med Univ, Grad Inst Integrated Med, Taichung, Taiwan

[5] China Med Univ, Childrens Hosp, Div Genet & Metab, 2 Yude Rd, Taichung 404, Taiwan

[6] China Med Univ, Sch Med, Taichung, Taiwan

[7] China Med Univ, Sch Chinese Med, Taichung, Taiwan

[8] China Med Univ Hosp, Dept Med Genet, Taichung, Taiwan

[9] Asia Univ, Dept Hlth & Nutr Biotechnol, Taichung, Taiwan

来源：

PEDIATRICS AND NEONATOLOGY | 2018年 / 59卷 / 04期

关键词：

GENOTYPE; COMP;

D O I：

10.1016/j.pedneo.2017.10.006

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

[No abstract available]

引用

页码：412 / 414

页数：3

共 50 条

[31] Identification of novel pro-α2(IX) collagen gene mutations in two families with distinctive olgo-epiphyseal forms of multiple epiphyseal dysplasia
Holden, P
Canty, EG
Mortier, GR
Zabel, B
Spranger, J
Carr, A
Grant, ME
Loughlin, JA
Briggs, MD
AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (01) : 31 - 38
[32] Novel PHEX gene mutations in two Taiwanese patients with hypophosphatemic rickets
Chou, YY
Chao, SC
Tsai, SC
Lin, SJ
JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION, 2005, 104 (03) : 198 - 202
[33] Pseudoachondroplasia and Multiple Epiphyseal Dysplasia: A 7-Year Comprehensive Analysis of the Known Disease Genes Identify Novel and Recurrent Mutations and Provides an Accurate Assessment of Their Relative Contribution
Jackson, Gail C.
Mittaz-Crettol, Laureane
Taylor, Jacqueline A.
Mortier, Geert R.
Spranger, Juergen
Zabel, Bernhard
Le Merrer, Martine
Cormier-Daire, Valerie
Hall, Christine M.
Offiah, Amaka
Wright, Michael J.
Savarirayan, Ravi
Nishimura, Gen
Ramsden, Simon C.
Elles, Rob
Bonafe, Luisa
Superti-Furga, Andrea
Unger, Sheila
Zankl, Andreas
Briggs, Michael D.
HUMAN MUTATION, 2012, 33 (01) : 144 - 157
[34] Novel Cartilage Oligomeric Matrix Protein (COMP) Neoepitopes Identified in Synovial Fluids from Patients with Joint Diseases Using Affinity Chromatography and Mass Spectrometry
Ahrman, Emma
Lorenzo, Pilar
Holmgren, Kristin
Grodzinsky, Alan J.
Dahlberg, Leif E.
Saxne, Tore
Heinegard, Dick
Onnerfjord, Patrik
JOURNAL OF BIOLOGICAL CHEMISTRY, 2014, 289 (30) : 20908 - 20916
[35] Two novel point mutations identified in the human coagulant protein factor VII gene
Tidd, T
Kudaravalli, R
Beaverson, K
DiMichele, DM
High, KA
Pollak, ES
THROMBOSIS AND HAEMOSTASIS, 1999, : 467 - 467
[36] Two novel AGXT mutations identified in Chinese patients with sever bilateral multiple nephrolithiasis
Du, Y.
Li, J.
INTERNATIONAL JOURNAL OF UROLOGY, 2017, 24 : 147 - 147
[37] Novel mutations in the ABCD1 gene of two Taiwanese patients with X-linked adrenoleukodystrophy
Liang, J. -S.
Sung, C. -C.
Lu, J. -F.
PROCEEDINGS OF THE 10TH INTERNATIONAL CHILD NEUROLOGY CONGRESS, 2006, : 219 - +
[38] Two novel missense mutations in the myostatin gene identified in Japanese patients with Duchenne muscular dystrophy
Nishiyama, Atsushi
Takeshima, Yasuhiro
Saiki, Kayoko
Narukage, Akiko
Oyazato, Yoshinobu
Yagi, Mariko
Matsuo, Masafumi
BMC MEDICAL GENETICS, 2007, 8
[39] Autosomal Recessive Multiple Epiphyseal Dysplasia in a Korean Girl Caused by Novel Compound Heterozygous Mutations in the DTDST (SLC26A2) Gene
Cho, Tae-Joon
Kim, Ok-Hwa
Lee, Hye-Ran
Shin, Sung Jin
Yoo, Won Joon
Park, Woong Yang
Park, Sung Sup
Cho, Sung Im
Choi, In Ho
JOURNAL OF KOREAN MEDICAL SCIENCE, 2010, 25 (07) : 1105 - 1108
[40] Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report
Zhou, Taifeng
Wang, Yongqian
Zhou, Hang
Liao, Zhiheng
Gao, Bo
Su, Deying
Zheng, Shuhui
Xu, Caixia
Su, Peiqiang
BMC MEDICAL GENETICS, 2018, 19

← 1 2 3 4 5 →