scholarly journals Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy

2017 ◽  
Vol 91 (5) ◽  
pp. 717-724 ◽  
Author(s):  
Q. Zhang ◽  
J. Li ◽  
Y. Zhao ◽  
X. Bao ◽  
L. Wei ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Mutation Analysis ◽  
Early Onset ◽  
Epileptic Encephalopathy ◽  
Chinese Patients ◽  
Gene Mutation Analysis

Clinical and GAA gene mutation analysis in 21 Chinese patients with classic infantile pompe disease

2020 ◽  
Vol 63 (12) ◽  
pp. 103997
Author(s):  
Xueying Su ◽  
Huiying Sheng ◽  
yonglan huang ◽  
Xiuzhen Li ◽  
Wen Zhang ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Mutation Analysis ◽  
Pompe Disease ◽  
Chinese Patients ◽  
Infantile Pompe Disease ◽  
Gene Mutation Analysis ◽  
Gaa Gene

scholarly journals Clinical Characteristics and Gene Mutation Analysis of the Chinese Han Population with Gitelman Syndrome: 3 Case Reports and a Literature Review

2020 ◽  
Vol 2020 ◽  
pp. 1-6
Author(s):  
Xueting Li ◽  
Ruofei Chen ◽  
Mingwei Chen
Keyword(s):  
Gene Mutation ◽  
Mutation Analysis ◽  
Clinical Characteristics ◽  
Clinical Phenotype ◽  
Gene Mutations ◽  
Gitelman Syndrome ◽  
Chinese Patients ◽  
Compound Heterozygous ◽  
Homozygous Mutation ◽  
Gene Mutation Analysis

The present study reported clinical characteristics and the results of gene mutation analysis of 3 Chinese patients with Gitelman syndrome (GS). Three patients manifested with normal blood pressure, recurrent hypokalemia, and metabolic alkalosis. Only case 2 had obvious hypomagnesemia. Gene sequencing showed a compound heterozygous mutation in SCL12A3 in case 1 and a homozygous mutation in SCL12A3 in case 2. Heterozygous mutations in SCL12A3 and CLCNKB were found in case 3. Then, the literature was reviewed. The keyword “Gitelman syndrome” was inputted into the PubMed, Wanfang Database, and CNK to search all Chinese patients with GS diagnosed by gene mutations and to extract complete clinical data from December 1998 to 2018. Finally, a total of 124 cases of GS were included. No significant differences in the levels of serum potassium and magnesium were observed among the different gene mutations, and the serum magnesium levels in adults were lower than those of the juvenile. GS with reduced blood magnesium had a serious clinical phenotype. Therefore, GS had a diverse phenotype, and its final diagnosis required genetic profiling. The relationship of gene mutation and clinical phenotype needed further study.

scholarly journals MECP2 gene mutation analysis in Chinese patients with Rett syndrome

2002 ◽  
Vol 10 (8) ◽  
pp. 484-486 ◽  
Author(s):  
Hong Pan ◽  
Yan-Ping Wang ◽  
Xing-Hua Bao ◽  
Hong-Di Meng ◽  
Yan Zhang ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Rett Syndrome ◽  
Mutation Analysis ◽  
Chinese Patients ◽  
Mecp2 Gene ◽  
Gene Mutation Analysis

scholarly journals MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome

2006 ◽  
Vol 52 (1) ◽  
pp. 38-47 ◽  
Author(s):  
Mei-rong Li ◽  
Hong Pan ◽  
Xin-Hua Bao ◽  
Yu-Zhi Zhang ◽  
Xi-Ru Wu
Keyword(s):  
Gene Mutation ◽  
Rett Syndrome ◽  
Mutation Analysis ◽  
Chinese Patients ◽  
Gene Mutation Analysis
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