Identifying Genes Underlying Human Inherited Disease

2016 ◽  
pp. 1-7
Author(s):  
Yanina Natanzon ◽  
Catherine M Stein ◽  
Jessica N Cooke Bailey
Keyword(s):  
Inherited Disease ◽  
Human Inherited Disease

scholarly journals Loss of exon identity is a common mechanism of human inherited disease

2011 ◽  
Vol 21 (10) ◽  
pp. 1563-1571 ◽  
Author(s):  
T. Sterne-Weiler ◽  
J. Howard ◽  
M. Mort ◽  
D. N. Cooper ◽  
J. R. Sanford
Keyword(s):  
Common Mechanism ◽  
Inherited Disease ◽  
Human Inherited Disease

In Silico Identification of Protein S-Palmitoylation Sites and Their Involvement in Human Inherited Disease

2015 ◽  
Vol 55 (9) ◽  
pp. 2015-2025 ◽  
Author(s):  
Shuyan Li ◽  
Jiazhong Li ◽  
Lulu Ning ◽  
Shaopeng Wang ◽  
Yuzhen Niu ◽  
...  
Keyword(s):  
In Silico ◽  
Protein S ◽  
Inherited Disease ◽  
In Silico Identification ◽  
Human Inherited Disease

HydPred: a novel method for the identification of protein hydroxylation sites that reveals new insights into human inherited disease

2016 ◽  
Vol 12 (2) ◽  
pp. 490-498 ◽  
Author(s):  
Shuyan Li ◽  
Jun Lu ◽  
Jiazhong Li ◽  
Ximing Chen ◽  
Xiaojun Yao ◽  
...  
Keyword(s):  
Web Server ◽  
Inherited Disease ◽  
Reliable Tool ◽  
Novel Method ◽  
User Friendly ◽  
Human Inherited Disease

HydPred was presented as the most reliable tool up to now for the identification of protein hydroxylation sites with a user-friendly web server at http://lishuyan.lzu.edu.cn/hydpred/.

Point mutations of 3BP2 identified in human-inherited disease cherubism result in the loss of function

2004 ◽  
Vol 9 (11) ◽  
pp. 993-1004 ◽  
Author(s):  
S. M. Shahjahan Miah ◽  
Tomoko Hatani ◽  
Xiujuan Qu ◽  
Hirohei Yamamura ◽  
Kiyonao Sada
Keyword(s):  
Point Mutations ◽  
Inherited Disease ◽  
Loss Of Function ◽  
Human Inherited Disease

β-Thalassemic Syndromes As a Model for the Study of the Molecular Basis of Human Inherited Disease

1987 ◽  
pp. 283-293
Author(s):  
S. Ottolenghi ◽  
B. Giglioni ◽  
P. Comi ◽  
R. Mantovani ◽  
N. Malgaretti ◽  
...  
Keyword(s):  
Molecular Basis ◽  
Inherited Disease ◽  
Human Inherited Disease

scholarly journals The Loss and Gain of Functional Amino Acid Residues Is a Common Mechanism Causing Human Inherited Disease

2016 ◽  
Vol 12 (8) ◽  
pp. e1005091 ◽  
Author(s):  
Jose Lugo-Martinez ◽  
Vikas Pejaver ◽  
Kymberleigh A. Pagel ◽  
Shantanu Jain ◽  
Matthew Mort ◽  
...  
Keyword(s):  
Amino Acid ◽  
Common Mechanism ◽  
Amino Acid Residues ◽  
Inherited Disease ◽  
Human Inherited Disease
Sign in / Sign up

Export Citation Format

Share Document