Prenatal diagnosis of a missense mutation of c.2279G>A, Gly760Glu in exon 37 of COL1A2 in a fetus with familial osteogenesis imperfecta type IV and favorable outcome

被引：1

作者：

Chen, Chih-Ping ^{[1
,2
,3
,4
,5
,6
,7
]}

Lin, Shuan-Pei ^{[2
,3
,8
,9
]}

Su, Yi-Ning ^{[10
]}

Chern, Schu-Rern ^{[2
]}

Su, Jun-Wei ^{[1
,11
]}

Wang, Wayseen ^{[2
,12
]}

机构：

[1] Mackay Mem Hosp, Dept Obstet & Gynecol, Taipei, Taiwan

[2] Mackay Mem Hosp, Dept Med Res, Taipei, Taiwan

[3] Mackay Med Coll, Dept Med, New Taipei City, Taiwan

[4] Asia Univ, Dept Biotechnol, Taichung, Taiwan

[5] China Med Univ, Coll Chinese Med, Sch Chinese Med, Taichung, Taiwan

[6] Natl Yang Ming Univ, Inst Clin & Community Hlth Nursing, Taipei 112, Taiwan

[7] Natl Yang Ming Univ, Sch Med, Dept Obstet & Gynecol, Taipei 112, Taiwan

[8] Mackay Mem Hosp, Dept Pediat, Taipei, Taiwan

[9] Mackay Med Nursing & Management Coll, Taipei, Taiwan

[10] Taipei Med Univ, Sch Med, Dept Obstet & Gynecol, Taipei, Taiwan

[11] China Med Univ Hosp, Dept Obstet & Gynecol, Taichung, Taiwan

[12] Tatung Univ, Dept Bioengn, Taipei 104, Taiwan

来源：

TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY | 2013年 / 52卷 / 01期

关键词：

PREGNANCY; COLLAGEN; TERM;

D O I：

10.1016/j.tjog.2013.01.022

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

[No abstract available]

引用

页码：152 / 153

页数：2

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Prenatal diagnosis of a missense mutation of c.2279G&gt;A, Gly760Glu in exon 37 of COL1A2 in a fetus with familial osteogenesis imperfecta type IV and favorable outcome

Prenatal diagnosis of a missense mutation of c.2279G>A, Gly760Glu in exon 37 of COL1A2 in a fetus with familial osteogenesis imperfecta type IV and favorable outcome