scholarly journals GW26-e2395 A frame shift mutation(1208fs) in the MYBPC3 gene associated with hypertrophic cardiomyopathy in a Chinese family

2015 ◽  
Vol 66 (16) ◽  
pp. C220
Author(s):  
Liwen Liu
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Chinese Family ◽  
Frame Shift ◽  
Frame Shift Mutation ◽  
Mybpc3 Gene

A novel frame-shift mutation of GLI3 causes non-syndromic and complex digital anomalies in a Chinese family

2011 ◽  
Vol 412 (11-12) ◽  
pp. 1012-1017 ◽  
Author(s):  
Feng Cheng ◽  
Xin Ke ◽  
Ming Lv ◽  
Fan Zhang ◽  
Chaohua Li ◽  
...  
Keyword(s):  
Chinese Family ◽  
Frame Shift ◽  
Frame Shift Mutation

scholarly journals A novel NF1 frame-shift mutation (c.702_703delGT) in a Chinese family with neurofibromatosis type 1

2014 ◽  
Vol 13 (3) ◽  
pp. 5395-5404 ◽  
Author(s):  
S.P. Cai ◽  
N. Fan ◽  
J. Chen ◽  
Z.L. Xia ◽  
Y. Wang ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Chinese Family ◽  
Frame Shift ◽  
Frame Shift Mutation

scholarly journals Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome

2020 ◽  
Vol 40 (6) ◽  
Author(s):  
Sheng Deng ◽  
Shan Wu ◽  
Hong Xia ◽  
Wei Xiong ◽  
Xiong Deng ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Coiled Coil ◽  
Han Chinese ◽  
Chinese Family ◽  
Kartagener Syndrome ◽  
Coiled Coil Domain ◽  
Frame Shift ◽  
Frame Shift Mutation ◽  
Recessive Form ◽  
Ciliary Dyskinesia

Abstract Kartagener syndrome (KS), a subtype of primary ciliary dyskinesia (PCD), is characterized by bronchiectasis, chronic sinusitis, male infertility and situs inversus. KS is a genetically heterogeneous disease that is inherited in an autosomal recessive form; however, X-linked inheritance has also been reported. As of this writing [late 2020], at least 34 loci, most of which have known genes, have been reported in the literature as associating with KS. In the present study, we identified a frame shift mutation, c.167delG (p.G56Dfs*26), in the coiled-coil domain containing 151 gene (CCDC151) responsible for KS in a Han-Chinese family. To our knowledge, this is the first report of a CCDC151 c.167delG mutation in the KS patient. These findings may expand the CCDC151 mutation spectrum of KS, and contribute to future genetic counseling and gene-targeted therapy for this disease.

Familial Cerebral Cavernous Angiomas: Clinical and Genetic Features in a Chinese Family with a Frame-Shift Mutation in the CCM1 Gene (krit1)

2014 ◽  
Vol 54 (4) ◽  
pp. 790-795 ◽  
Author(s):  
Hui Zhu ◽  
Yingjie Guo ◽  
Xuemin Feng ◽  
Rensheng Zhang ◽  
Chunkui Zhou ◽  
...  
Keyword(s):  
Chinese Family ◽  
Cavernous Angiomas ◽  
Frame Shift ◽  
Frame Shift Mutation ◽  
Genetic Features

Identification of a Novel Frame-Shift Mutation in PRSS1 Gene in Han Patients with Autoimmune Pancreatitis

2014 ◽  
Vol 14 (3) ◽  
pp. 340-348 ◽  
Author(s):  
F. Gao ◽  
Y. Li ◽  
C. Wang ◽  
Z. Zhuang ◽  
Q.C. Liu ◽  
...  
Keyword(s):  
Autoimmune Pancreatitis ◽  
Frame Shift ◽  
Frame Shift Mutation

Novel frame-shift mutation in Slc5a2 encoding SGLT2 in a strain of senescence-accelerated mouse SAMP10

2014 ◽  
Vol 454 (1) ◽  
pp. 89-94 ◽  
Author(s):  
Keiko Unno ◽  
Hiroyuki Yamamoto ◽  
Masateru Toda ◽  
Shiori Hagiwara ◽  
Kazuaki Iguchi ◽  
...  
Keyword(s):  
Frame Shift ◽  
Frame Shift Mutation ◽  
Senescence Accelerated Mouse
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