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MeSH:(Frameshift Mutation/genetics*)

2.Genetic testing and clinical analysis of a patient with Dilated cardiomyopathy due to variant of FLNC gene.

Yanlong REN ; Yahui ZHANG ; Xiaoping ZHANG ; Yueli WANG ; Xuxia LIU ; Jin SHENG ; Shangqiu NING ; Wenxian LIU ; Xiaoyan LI

Chinese Journal of Medical Genetics 2023;40(12):1551-1555

3.A new frame-shifting mutation of UGT1A1 gene causes type I Crigler-Najjar syndrome.

Jin WANG ; Ling-Juan FANG ; Long LI ; Jian-She WANG ; Chao CHEN

Chinese Medical Journal 2011;124(23):4109-4111

4.Two novel TSC2 frameshift mutations in tuberous sclerosis complex.

Yu-Chun PAN ; Wei-Qing WU ; Jian-Sheng XIE ; Cai-Qun LUO ; Ying HAO

Chinese Journal of Contemporary Pediatrics 2017;19(3):308-312

5.Genetic analysis of an inherited afibrinogenemia family caused by a novel frameshift mutation in FGA.

Feng XUE ; Jing GE ; Dong-Sheng GU ; Wei-Ting DU ; Tao SUI ; Hai-Feng ZHAO ; Lei ZHANG ; Ren-Chi YANG

Journal of Experimental Hematology 2009;17(4):1021-1025

6.Congenital afibrinogenemia caused by a novel insertion mutation in the FGB gene.

Jian ZHANG ; Xiao-juan ZHAO ; Zhao-yue WANG ; Zi-qiang YU ; Li-Juan CAO ; Zhen-ni MA ; Jie ZHANG ; Wei ZHANG ; Xia BAI ; Chang-geng RUAN

Chinese Journal of Hematology 2013;34(9):751-756

7.Identification of a novel DGUOK variant in a Chinese family affected with mitochondrial DNA depletion syndrome.

Chengfang JIA ; Wei PENG ; Xiao YANG ; Yao YANG

Chinese Journal of Medical Genetics 2020;37(4):410-414

8.Molecular genetic basis for para-Bombay phenotypes in two cases.

Yang-Ming HE ; Xian-Guo XU ; Fa-Ming ZHU ; Li-Xing YAN

Journal of Experimental Hematology 2007;15(3):626-629

9.A case of mental retardation caused by a frameshift variant of SYNGAP1 gene.

Yue SHEN ; Guanjun LUO ; Chao LU ; Yuan TAN ; Tingting CHENG ; Xuguang QIAN ; Nuo LI ; Minna LUO ; Zongfu CAO ; Xu MA ; Yong ZHAO

Chinese Journal of Medical Genetics 2023;40(1):57-61

10.Analysis of COL9A2 gene mutations in a Chinese Han population with pathological myopia.

Rong CHEN ; Bo GONG ; Qian LI ; Guangqun ZENG ; Fang HAO ; Ning LI ; Yi SHI ; Dingding ZHANG

Chinese Journal of Medical Genetics 2014;31(2):129-133

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