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Novel hereditary spherocytosis-associated splice site mutation in the gene caused by parental gonosomal mosaicism.

作者信息

Wang Xiong, Shen Na, Huang Ming, Lu Yanjun, Hu Qun

机构信息

Department of Laboratory Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

Department of Laboratory Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China

出版信息

Haematologica. 2018 May;103(5):e219-e222. doi: 10.3324/haematol.2017.186551. Epub 2018 Feb 15.

DOI:10.3324/haematol.2017.186551
PMID:29449435
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5927983/
Abstract
摘要

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本文引用的文献

1
Mosaicism in Cutaneous Disorders.皮肤疾病中的嵌合体现象。
Annu Rev Genet. 2017 Nov 27;51:123-141. doi: 10.1146/annurev-genet-121415-121955.
2
Recommendations regarding splenectomy in hereditary hemolytic anemias.遗传性溶血性贫血脾切除术的推荐意见。
Haematologica. 2017 Aug;102(8):1304-1313. doi: 10.3324/haematol.2016.161166. Epub 2017 May 26.
3
Timing, rates and spectra of human germline mutation.人类种系突变的时间、速率和谱系。
Nat Genet. 2016 Feb;48(2):126-133. doi: 10.1038/ng.3469. Epub 2015 Dec 14.
4
A systematic review of hereditary spherocytosis reported in Chinese biomedical journals from 1978 to 2013 and estimation of the prevalence of the disease using a disease model.一项对1978年至2013年中国生物医学期刊报道的遗传性球形红细胞增多症的系统评价以及使用疾病模型对该疾病患病率的估计。
Intractable Rare Dis Res. 2015 May;4(2):76-81. doi: 10.5582/irdr.2015.01002.
5
Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders.父母体细胞嵌合现象未得到充分认识，且会影响基因组疾病的复发风险。
Am J Hum Genet. 2014 Aug 7;95(2):173-82. doi: 10.1016/j.ajhg.2014.07.003. Epub 2014 Jul 31.
6
SWISS-MODEL: modelling protein tertiary and quaternary structure using evolutionary information.SWISS-MODEL：利用进化信息进行蛋白质三级和四级结构建模。
Nucleic Acids Res. 2014 Jul;42(Web Server issue):W252-8. doi: 10.1093/nar/gku340. Epub 2014 Apr 29.
7
Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders.遗传性球形红细胞增多症、椭圆形红细胞增多症及其他红细胞膜缺陷。
Blood Rev. 2013 Jul;27(4):167-78. doi: 10.1016/j.blre.2013.04.003. Epub 2013 May 9.
8
A genomic view of mosaicism and human disease.人类疾病的嵌合体现象与基因组研究
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Improving the limit of detection for Sanger sequencing: a comparison of methodologies for KRAS variant detection.提高桑格测序的检测限：KRAS 变异检测方法的比较。
Biotechniques. 2012 Sep;53(3):182-8. doi: 10.2144/000113913.
10
Structure of the ZU5-ZU5-UPA-DD tandem of ankyrin-B reveals interaction surfaces necessary for ankyrin function.ZU5-ZU5-UPA-DD 串联衔接蛋白的结构揭示了衔接蛋白发挥功能所必需的相互作用表面。
Proc Natl Acad Sci U S A. 2012 Mar 27;109(13):4822-7. doi: 10.1073/pnas.1200613109. Epub 2012 Mar 12.