scholarly journals Identification and characterization of six β‐crystallin gene mutations associated with congenital cataract in Chinese families

2021 ◽  
Author(s):  
Yinhui Yu ◽  
Yue Qiao ◽  
Yang Ye ◽  
Jinyu Li ◽  
Ke Yao
Keyword(s):  
Congenital Cataract ◽  
Gene Mutations ◽  
Chinese Families ◽  
Identification And Characterization

scholarly journals Identification and characterization of retinoblastoma gene mutations disturbing apoptosis in human breast cancers

2010 ◽  
Vol 9 (1) ◽  
pp. 173 ◽  
Author(s):  
Elisabet Berge ◽  
Stian Knappskog ◽  
Stephanie Geisler ◽  
Vidar Staalesen ◽  
Marec Pacal ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Breast Cancers ◽  
Retinoblastoma Gene ◽  
Human Breast ◽  
Identification And Characterization

scholarly journals Identification and characterization of LDL receptor gene mutations in hyperlipidemic Chinese

2003 ◽  
Vol 44 (10) ◽  
pp. 1850-1858 ◽  
Author(s):  
Jui-Hung Chang ◽  
Ju-Pin Pan ◽  
Der-Yan Tai ◽  
Ai-Chun Huang ◽  
Pi-Hung Li ◽  
...  
Keyword(s):  
Receptor Gene ◽  
Ldl Receptor ◽  
Gene Mutations ◽  
Identification And Characterization

Identification and characterization of the novel m.8305C>T MTTK and m.4440G>A MTTM gene mutations causing mitochondrial myopathies

2018 ◽  
Vol 28 (2) ◽  
pp. 137-143 ◽  
Author(s):  
Mauro Scarpelli ◽  
Lidia Carreño-Gago ◽  
Anna Russignan ◽  
Noemi de Luna ◽  
Clara Carnicer-Cáceres ◽  
...  
Keyword(s):  
Gene Mutations ◽  
The Novel ◽  
Mitochondrial Myopathies ◽  
Identification And Characterization

Identification and Characterization of CFTR Gene Mutations in Indian CF Patients

2009 ◽  
Vol 73 (1) ◽  
pp. 26-33 ◽  
Author(s):  
N. Sharma ◽  
M. Singh ◽  
G. Kaur ◽  
B. R. Thapa ◽  
R. Prasad
Keyword(s):  
Gene Mutations ◽  
Cftr Gene ◽  
Cftr Gene Mutations ◽  
Identification And Characterization

scholarly journals Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease

2010 ◽  
Vol 31 (12) ◽  
pp. E1894-E1914 ◽  
Author(s):  
Barbara Tappino ◽  
Roberta Biancheri ◽  
Matthew Mort ◽  
Stefano Regis ◽  
Fabio Corsolini ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Krabbe Disease ◽  
Galc Gene ◽  
Identification And Characterization

scholarly journals Identification and Characterization of Melanocortin-4 Receptor Gene Mutations in Morbidly Obese Finnish Children and Adults

2004 ◽  
Vol 89 (2) ◽  
pp. 940-945 ◽  
Author(s):  
Kaisa Valli-Jaakola ◽  
Marita Lipsanen-Nyman ◽  
Laura Oksanen ◽  
Anthony N. Hollenberg ◽  
Kimmo Kontula ◽  
...  
Keyword(s):  
Receptor Gene ◽  
Gene Mutations ◽  
Morbidly Obese ◽  
Melanocortin 4 Receptor ◽  
Melanocortin 4 Receptor Gene ◽  
Identification And Characterization
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