Fibrinogen BOE II: Intracerebral hemorrhage associated with a novel compound mutation in a Chinese family with dysfibrinogenemia

2020 ◽  
Vol 196 ◽  
pp. 63-66
Author(s):  
Xiaoyu Wang ◽  
Yang Li ◽  
Zhongqiu Luo ◽  
Yan Hu ◽  
Rong Wang ◽  
...  
Keyword(s):  
Intracerebral Hemorrhage ◽  
Chinese Family ◽  
Compound Mutation

scholarly journals Novel compound heterozygous mutation in the CNGA1 gene underlie autosomal recessive retinitis pigmentosa in a Chinese family

2016 ◽  
Vol 36 (1) ◽  
Author(s):  
Xin Jin ◽  
Ling-Hui Qu ◽  
Bao-Ke Hou ◽  
Hai-Wei Xu ◽  
Xiao-Hong Meng ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Protein Product ◽  
Compound Heterozygous Mutation ◽  
Chinese Family ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Rod Photoreceptors ◽  
Gene Coding ◽  
Compound Mutation

A novel compound mutation in CNGA1 gene, coding for the cGMP-gated ion channel protein, results in a protein product that is not targeted to the plasma membrane, which would be deleterious to rod photoreceptors leading to retinitis pigmentosa (RP).

A novel compound mutation of CYP27B1 in a Chinese family with vitamin D-dependent rickets type 1A

2014 ◽  
Vol 27 (3-4) ◽  
Author(s):  
Wei-Wei Hu ◽  
Yao-Hua Ke ◽  
Jin-Wei He ◽  
Wen-Zhen Fu ◽  
Chun Wang ◽  
...  
Keyword(s):  
Vitamin D ◽  
Chinese Family ◽  
Compound Mutation

The Role of Stereotactic Technology in the Management of Intracerebral Hemorrhage

1992 ◽  
Vol 3 (3) ◽  
pp. 685-702 ◽  
Author(s):  
Christopher B. Shields ◽  
William A. Friedman
Keyword(s):  
Intracerebral Hemorrhage

420 A novel SCN5A mutation (R878C) associated with sick sinus syndrome in one Chinese family

2006 ◽  
Vol 5 (1) ◽  
pp. 98-98
Author(s):  
Y ZHANG ◽  
A MA ◽  
H WAN ◽  
C HUANG ◽  
X ZHOU ◽  
...  
Keyword(s):  
Sick Sinus Syndrome ◽  
Chinese Family ◽  
Scn5a Mutation

Neuroprotective effect of antisense oligodeoxynucleotides in experimental intracerebral hemorrhage in rats

2005 ◽  
Vol 25 (1_suppl) ◽  
pp. S505-S505
Author(s):  
Huijin Yan ◽  
Mengzhou Xue ◽  
Christopher Power ◽  
Marc R Del-Bigio ◽  
James Peeling
Keyword(s):  
Intracerebral Hemorrhage ◽  
Neuroprotective Effect ◽  
Antisense Oligodeoxynucleotides

Spontaneous Intracerebral Hemorrhage in the Elderly Population

2018 ◽  
Author(s):  
S. Sommaruga ◽  
R. Beekman ◽  
S. Chu ◽  
Z. King ◽  
C. Matouk ◽  
...  
Keyword(s):  
Intracerebral Hemorrhage ◽  
Elderly Population ◽  
The Elderly ◽  
Spontaneous Intracerebral Hemorrhage
Sign in / Sign up

Export Citation Format

Share Document