scholarly journals Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient

2022 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Chen-Mei Liu ◽  
Ping-Jiao Chen ◽  
Qi Wang ◽  
Xin-Yao Zheng ◽  
Hong-Yan Lu ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Chinese Patient ◽  
Connexin 26

A novel missense mutation of the ATP2C1 gene in a Chinese patient with Hailey–Hailey disease

2011 ◽  
Vol 406 (3) ◽  
pp. 420-422 ◽  
Author(s):  
Yu Cheng ◽  
Yi-Ming Cheng ◽  
Guang Zhao ◽  
Meng-Chun Jia
Keyword(s):  
Missense Mutation ◽  
Chinese Patient

Homozygous missense mutation in theLIPHgene causing autosomal recessive hypotrichosis simplex in a Chinese patient

2013 ◽  
Vol 41 (1) ◽  
pp. 105-107 ◽  
Author(s):  
Linghua H. Liu ◽  
Jingwen W. Wang ◽  
Gang Chen ◽  
Ruixue X. Chang ◽  
Yi Zhou ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Autosomal Recessive ◽  
Chinese Patient ◽  
Homozygous Missense Mutation

scholarly journals A novel missense mutation in exon 4 of the factor VIII:C gene resulting in moderately severe hemophilia A

Blood ◽  
1989 ◽  
Vol 74 (8) ◽  
pp. 2688-2691
Author(s):  
V Chan ◽  
TK Chan ◽  
TM Tong ◽  
D Todd
Keyword(s):  
Missense Mutation ◽  
Point Mutation ◽  
Gel Electrophoresis ◽  
Genomic Dna ◽  
Hemophilia A ◽  
Polyacrylamide Gel Electrophoresis ◽  
Chinese Patient ◽  
Ecori Site ◽  
Severe Hemophilia ◽  
Exon 4

A new point mutation due to C----T transition at codon 189 (TCA) of the factor VIII:C gene was found in a Chinese patient with moderately severe hemophilia A. This mutation abolishes the EcoRI site (GAATTC) in exon 4 and can be directly detected by polyacrylamide gel electrophoresis of amplified genomic DNA.

scholarly journals A novel missense mutation in ADAR1 gene causing dyschromatosis symmetrica hereditaria in a Chinese patient

2015 ◽  
Vol 81 (3) ◽  
pp. 327
Author(s):  
Cheng-Rang Li ◽  
Zhi-Liang Li ◽  
Guo-Yi Zhang ◽  
Yun Hui ◽  
Rui-Xing Yu ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Chinese Patient ◽  
Dyschromatosis Symmetrica Hereditaria

scholarly journals Vohwinkel Syndrome secondary to missense mutation D66H in GJB2 gene (connexin 26) can include epileptic manifestations

Seizure ◽  
2010 ◽  
Vol 19 (2) ◽  
pp. 129-131 ◽  
Author(s):  
Pedro J. Serrano Castro ◽  
Cristina Naranjo Fernandez ◽  
Pablo Quiroga Subirana ◽  
Manuel Payan Ortiz
Keyword(s):  
Missense Mutation ◽  
Gjb2 Gene ◽  
Connexin 26

scholarly journals A novel DLL4 missense mutation in a Chinese patient with Adams-Oliver syndrome

2019 ◽  
Vol 132 (14) ◽  
pp. 1755-1757
Author(s):  
Xue Yu ◽  
Rong-Rong Wang ◽  
Shi-Rui Han ◽  
Xiao Bai ◽  
Xiaerbati Habulieti ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Chinese Patient
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