Two novel mutations in the ATP2A2 gene in Chinese patients with Darier disease

2009 ◽  
Vol 19 (5) ◽  
pp. 512-513 ◽  
Author(s):  
Jia Huo ◽  
XiaoPeng Wang ◽  
YingYing Dong ◽  
JiaWen Wu ◽  
XiaoLi Li ◽  
...  
Keyword(s):  
Chinese Patients ◽  
Novel Mutations ◽  
Darier Disease ◽  
Atp2a2 Gene

Three novel mutations of theATP2A2gene in Chinese patients with Darier disease

2018 ◽  
Vol 60 (2) ◽  
Author(s):  
Qing Zhao ◽  
Fanghui Fu ◽  
Xi'an Fu ◽  
Zhenzhen Wang ◽  
Hong Liu ◽  
...  
Keyword(s):  
Chinese Patients ◽  
Novel Mutations ◽  
Darier Disease

scholarly journals Two novel mutations of the PAX6 gene causing different phenotype in a cohort of Chinese patients

Eye ◽  
2011 ◽  
Vol 25 (12) ◽  
pp. 1581-1589 ◽  
Author(s):  
X Zhang ◽  
Y Tong ◽  
W Xu ◽  
B Dong ◽  
H Yang ◽  
...  
Keyword(s):  
Chinese Patients ◽  
Pax6 Gene ◽  
Novel Mutations

Sporadic case of Darier disease caused by a novel splice-site mutation in the ATP2A2 gene

2018 ◽  
Vol 44 (2) ◽  
pp. e10-e12
Author(s):  
S. Yasuno ◽  
Y. Miyoshi ◽  
N. Asano ◽  
T. Okita ◽  
M. Yamaguchi ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Sporadic Case ◽  
Site Mutation ◽  
Darier Disease ◽  
Atp2a2 Gene

Identification of two novel mutations in Chinese patients with Dyschromatosis symmetrica hereditaria

2005 ◽  
Vol 297 (5) ◽  
pp. 196-200 ◽  
Author(s):  
Ming Li ◽  
Chengrang Li ◽  
Haikang Hua ◽  
Wenyuan Zhu ◽  
Yan Lu ◽  
...  
Keyword(s):  
Chinese Patients ◽  
Novel Mutations ◽  
Dyschromatosis Symmetrica Hereditaria

Novel Mutations in CLN5 of Chinese Patients With Neuronal Ceroid Lipofuscinosis

2018 ◽  
Vol 33 (13) ◽  
pp. 837-850 ◽  
Author(s):  
Lv Ge ◽  
Han Yun Li ◽  
Yuan Hai ◽  
Liu Min ◽  
Li Xing ◽  
...  
Keyword(s):  
Age Of Onset ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Hereditary Disease ◽  
Chinese Patients ◽  
Missense Mutations ◽  
Novel Mutations ◽  
Neuronal Protein ◽  
Ceroid Lipofuscinosis ◽  
Visual Problems ◽  
Homozygous Mutations

Neuronal ceroid lipofuscinosis is a hereditary disease, and ceroid-lipofuscinosis neuronal protein 5 (CLN5) has been proved to be associated with neuronal ceroid lipofuscinosis. Here we report 3 patients from 2 families diagnosed with CLN5 neuronal ceroid lipofuscinosis. Whole genome sequencing of DNAs from 3 patients and their families revealed 3 novel homozygous mutations, including 1 deletion CLN5.c718 719delAT and 2 missense mutations c.1082T>C and c.623G>A. We reviewed 278 papers about neuronal ceroid lipofuscinosis resulting from CLN5 mutations and compared Chinese cases with 27 European and American cases. The overall age of onset of European and American patients occur mainly at 3 to 6 years (66%, 18/27), 100% (27/27) of patients had psychomotor regression, 99% (26/27) patients presented vision decline, and 70% (19/27) of patients suffered seizures. In China, the age of onset in 3 patients was 5 years, but for 1 patient it was at 17 months. Four Chinese patients presented psychomotor deterioration and seizures; only 1 had visual problems.

Identification of eight novel mutations in 11 Chinese patients with maple syrup urine disease

2020 ◽  
Vol 16 (4) ◽  
pp. 401-410 ◽  
Author(s):  
Wei-Hua Sun ◽  
Bing-Bing Wu ◽  
Ya-Qiong Wang ◽  
Meng-Yuan Wu ◽  
Xin-Ran Dong ◽  
...  
Keyword(s):  
Maple Syrup Urine Disease ◽  
Chinese Patients ◽  
Novel Mutations ◽  
Maple Syrup ◽  
Urine Disease

Eleven novel mutations and clinical characteristics in seven Chinese patients with thiamine metabolism dysfunction syndrome

2020 ◽  
Vol 63 (10) ◽  
pp. 104003 ◽  
Author(s):  
Dongxiao Li ◽  
Jinqing Song ◽  
Xiyuan Li ◽  
Yi Liu ◽  
Hui Dong ◽  
...  
Keyword(s):  
Clinical Characteristics ◽  
Chinese Patients ◽  
Novel Mutations ◽  
Thiamine Metabolism

Eight novel mutations detected from eight Chinese patients with isovaleric acidemia

2019 ◽  
Vol 498 ◽  
pp. 116-121 ◽  
Author(s):  
Yanhan Li ◽  
Ming Shen ◽  
Ying Jin ◽  
Yi Liu ◽  
Lulu Kang ◽  
...  
Keyword(s):  
Chinese Patients ◽  
Novel Mutations ◽  
Isovaleric Acidemia

scholarly journals Novel mutations found in the ATP7B gene in Chinese patients with Wilson's disease

2019 ◽  
Vol 7 (5) ◽  
pp. e649
Author(s):  
Zhiling Qian ◽  
Xiongwei Cui ◽  
Yunli Huang ◽  
Yanmin Liu ◽  
Ning Li ◽  
...  
Keyword(s):  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Chinese Patients ◽  
Atp7b Gene ◽  
Novel Mutations
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