scholarly journals A Novel Splicing Mutation of the GNAS Gene in a Patient with Pseudohypoparathyroidism Ia

2011 ◽  
Vol 20 (1) ◽  
pp. 21-23
Author(s):  
Akie Nakamura ◽  
Tomoyuki Hostubo ◽  
Wakako Jo ◽  
Katsura Ishizu ◽  
Toshihiro Tajima
Keyword(s):  
Splicing Mutation ◽  
Gnas Gene ◽  
Pseudohypoparathyroidism Ia

Novel splicing mutation in FKBP10 gene in a patient with moderate/severe form of osteogenesis imperfecta

2013 ◽  
Author(s):  
Venturi Giacomo ◽  
Gandini Alberto ◽  
Monti Elena ◽  
Corradi Massimiliano ◽  
Vincenzi Monica ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Severe Form ◽  
Splicing Mutation

scholarly journals Rare and novel GNAS gene mutations in Chinese patients with thyroid cancer

2021 ◽  
Author(s):  
Zhuo Wang ◽  
Changwen Jing ◽  
Haixia Cao ◽  
Jianzhong Wu ◽  
Rong Ma
Keyword(s):  
Thyroid Cancer ◽  
Gene Mutations ◽  
Chinese Patients ◽  
Gnas Gene

CRISPR/Cas9-mediated genome editing of splicing mutation causing congenital hearing loss

Gene ◽  
2019 ◽  
Vol 703 ◽  
pp. 83-90 ◽  
Author(s):  
Nari Ryu ◽  
Min-A Kim ◽  
Deok-Gyun Choi ◽  
Ye-Ri Kim ◽  
Jong Kyung Sonn ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Genome Editing ◽  
Splicing Mutation ◽  
Congenital Hearing Loss

scholarly journals The Alternative Splicing Mutation Database: a hub for investigations of alternative splicing using mutational evidence

2008 ◽  
Vol 1 (1) ◽  
pp. 3 ◽  
Author(s):  
Jason M Bechtel ◽  
Preeti Rajesh ◽  
Irina Ilikchyan ◽  
Ying Deng ◽  
Pankaj K Mishra ◽  
...  
Keyword(s):  
Alternative Splicing ◽  
Splicing Mutation ◽  
Mutation Database

Automated splicing mutation analysis by information theory

2008 ◽  
Vol 29 (9) ◽  
pp. 1168-1168 ◽  
Author(s):  
Vijay K. Nalla ◽  
Peter K. Rogan
Keyword(s):  
Information Theory ◽  
Mutation Analysis ◽  
Splicing Mutation

scholarly journals Molecular cloning and expression analysis of the GNAS gene in pig and porcine fibroblast cells

2014 ◽  
Vol 13 (3) ◽  
pp. 5463-5473 ◽  
Author(s):  
J. Peng ◽  
Y.L. Li ◽  
Y.F. Shen ◽  
Y. Wang ◽  
N.Y. Xu
Keyword(s):  
Molecular Cloning ◽  
Expression Analysis ◽  
Cloning And Expression ◽  
Fibroblast Cells ◽  
Gnas Gene

Progressive osseous heteroplasia in a Chinese infant and a novel mutation in the GNAS gene

2017 ◽  
Vol 32 (6) ◽  
pp. e209-e211
Author(s):  
S.-D. Zhang ◽  
Z.-l. Xie ◽  
K.-Q. Zhang ◽  
K. NH-Tseung ◽  
J.-J. Zhao
Keyword(s):  
Novel Mutation ◽  
Gnas Gene ◽  
Progressive Osseous Heteroplasia
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