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Links from Nucleotide

Items: 5

1.
Importance of genetic evaluation and testing in pediatric cardiomyopathy
Muhammad Tariq, Stephanie M Ware
World J Cardiol. 2014 Nov 26; 6(11): 1156–1165. Published online 2014 Nov 26. doi: 10.4330/wjc.v6.i11.1156
PMCID:
PMC4244613
AbstractArticlePDF–899K
2.
A novel connexin 50 gene (gap junction protein, alpha 8) mutation associated with congenital nuclear and zonular pulverulent cataract
Jinyu Li, Qiwei Wang, Qiuyue Fu, Yanan Zhu, Yi Zhai, Yinhui Yu, Kai Zhang, Ke Yao
Mol Vis. 2013; 19: 767–774. Published online 2013 Apr 5.
PMCID:
PMC3626375
AbstractArticlePDF–1.5M
3.
Congenital polymorphic cataract associated with a G to A splice site mutation in the human beta-crystallin gene CRYβA3/A1
Yibo Yu, Jinyu Li, Jia Xu, Qiwei Wang, Yinhui Yu, Ke Yao
Mol Vis. 2012; 18: 2213–2220. Published online 2012 Aug 8.
PMCID:
PMC3425576
AbstractArticlePDF–492K
4.
Characterization of a novel mutation in the CRYBB2 gene associated with autosomal dominant congenital posterior subcapsular cataract in a Chinese family
Ke Yao, Jinyu Li, Chongfei Jin, Wei Wang, Yanan Zhu, Xingchao Shentu, Qiwei Wang
Mol Vis. 2011; 17: 144–152. Published online 2011 Jan 13.
PMCID:
PMC3021577
AbstractArticlePDF–741K
5.
A novel γD-crystallin mutation causes mild changes in protein properties but leads to congenital coralliform cataract
Li-Yun Zhang, Bo Gong, Jian-Ping Tong, Dorothy Shu-Ping Fan, Sylvia Wai-Yee Chiang, Dinghua Lou, Dennis Shun-Chiu Lam, Gary Hin-Fai Yam, Chi-Pui Pang
Mol Vis. 2009; 15: 1521–1529. Published online 2009 Aug 6.
PMCID:
PMC2722711
AbstractArticlePDF–3.5M

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