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MeSH:(Mutation, Missense/genetics*)

2.Identification of two novel variants of the PCCB gene in a pedigree affected with propionic acidemia.

Qigang ZHANG ; Guanglai FAN ; Shu ZHANG ; Yuefang LIU ; Wenjie ZHANG ; Qiong PAN

Chinese Journal of Medical Genetics 2021;38(3):251-254

3.Different Subtypes Caused by c.721C>T Substitution in the Exon 7 of ABO Gene.

Jian-Yu XIAO ; Chen-Chen FENG ; Tai-Xiang LIU ; Li-Li SHI ; Ruo-Yang ZHANG ; Cheng-Yin HUANG ; Qing CHEN

Journal of Experimental Hematology 2021;29(6):1917-1922

4.Characteristics of PAH gene variants among 113 phenylketonuria patients from Henan Province.

Chen CHEN ; Zhenhua ZHAO ; Yilin REN ; Xiangdong KONG

Chinese Journal of Medical Genetics 2018;35(6):791-795

5.Analysis of F12 gene variants and molecular mechanisms in patients with coagulation factor Ⅻ deficiency.

Shuai FANG ; Jia YANG ; Xialin ZHANG ; Linhua YANG ; Gang WANG

Chinese Journal of Medical Genetics 2023;40(4):429-434

6.Genetic analysis of a child with Kartagener syndrome due to novel compound heterozygous variants of DNAH5 gene.

Shan ZHANG ; Chaobing WANG ; Yong ZHANG ; Yandong HU ; Xu LI ; Chuang ZHI

Chinese Journal of Medical Genetics 2023;40(1):71-75

7.Clinical phenotype and gene mutation analysis of 12 patients with hereditary protein C deficiency in different families.

Qi Yu XU ; Li Hong YANG ; Hai Xiao XIE ; Yan Hui JIN ; Xiao Long LI ; Xing Xing ZHOU ; Mei Na LIU ; Ming Shan WANG

Chinese Journal of Hematology 2022;43(1):35-40

10.Identification of a novel RHO mutation in a pedigree affected with retinitis pigmentosa.

Zhouxian BAI ; Lina LIU ; Shuang HU ; Qinghua WU ; Xiangdong KONG

Chinese Journal of Medical Genetics 2019;36(3):234-237

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