Novel Mutation in the ABCA1 Gene Identified in a Chinese Patient with Dementia and Atherothrombotic Cerebral Infarction

2008 ◽  
Vol 26 (3) ◽  
pp. 234-238 ◽  
Author(s):  
Xie-Hua Xue ◽  
Ning Wang ◽  
Yi Lin ◽  
Gui-Xian Zhao ◽  
Ling Fang ◽  
...  
Keyword(s):  
Cerebral Infarction ◽  
Novel Mutation ◽  
Chinese Patient ◽  
Atherothrombotic Cerebral Infarction ◽  
I Gene

Mitochondrial haplogroup A is a genetic risk factor for atherothrombotic cerebral infarction in Japanese females

Mitochondrion ◽  
2007 ◽  
Vol 7 (1-2) ◽  
pp. 72-79 ◽  
Author(s):  
Yutaka Nishigaki ◽  
Yoshiji Yamada ◽  
Noriyuki Fuku ◽  
Hitoshi Matsuo ◽  
Tomonori Segawa ◽  
...  
Keyword(s):  
Risk Factor ◽  
Cerebral Infarction ◽  
Genetic Risk ◽  
Genetic Risk Factor ◽  
Mitochondrial Haplogroup ◽  
Atherothrombotic Cerebral Infarction

A novel mutation in the GTP cyclohydrolase I gene associated with a broad range of clinical presentations in a family with autosomal dominant dopa-responsive dystonia

1999 ◽  
Vol 6 (5) ◽  
pp. 605-608 ◽  
Author(s):  
Elena D. Markova ◽  
Pyotr A. Slominsky ◽  
Sergei N. Illarioshkin ◽  
Natalya I. Miklina ◽  
Svetlana N. Popova ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Novel Mutation ◽  
Gtp Cyclohydrolase I ◽  
Gtp Cyclohydrolase ◽  
Clinical Presentations ◽  
I Gene

Identification of a novel mutation in a Chinese patient with mild Darier's disease

2010 ◽  
Vol 49 (11) ◽  
pp. 1286-1288 ◽  
Author(s):  
Cheng-Rang Li ◽  
Pang-Gen Cui ◽  
Hong Jia ◽  
Hong-Sheng Wang ◽  
Min Chen ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Chinese Patient ◽  
Darier’S Disease ◽  
Darier's Disease

A novel mutation (Q239R) identified in a Taiwan Chinese patient with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome)

2000 ◽  
Vol 15 (4) ◽  
pp. 389-390 ◽  
Author(s):  
Jer-Yuarn Wu ◽  
Chi-Fan Yang ◽  
Cheng-Chun Lee ◽  
Jan-Gowth Chang ◽  
Fuu-Jen Tsai
Keyword(s):  
Novel Mutation ◽  
Chinese Patient ◽  
Taiwan Chinese

scholarly journals A Novel Mutation of PRKAR1A Caused Carney Complex in a Chinese Patient

2017 ◽  
Vol 130 (24) ◽  
pp. 3009-3010
Author(s):  
Xiao-Ling Cai ◽  
Jing Wu ◽  
Ying-Ying Luo ◽  
Ling Chen ◽  
Xue-Yao Han ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Carney Complex ◽  
Chinese Patient

A novel mutation (insTCCG) in the TSC2 gene in a Chinese patient with Tuberous sclerosis complex

2008 ◽  
Vol 49 (1) ◽  
pp. 92-94 ◽  
Author(s):  
Cheng-Da Yuan ◽  
Xiao-Li Chang ◽  
Min Gao ◽  
Feng-Li Xiao ◽  
Yao-Qun Wu ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Novel Mutation ◽  
Chinese Patient ◽  
Tsc2 Gene

scholarly journals Partial HPRT Deficiency with a Novel Mutation of the HPRT Gene in Combination with Four Previously Reported Variants Associated with Hyperuricemia

2015 ◽  
Vol 54 (12) ◽  
pp. 1523-1526 ◽  
Author(s):  
Masafumi Kurajoh ◽  
Hidenori Koyama ◽  
Miki Hatayama ◽  
Hirokazu Okazaki ◽  
Takuhito Shoji ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Hprt Deficiency ◽  
I Gene
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