Genetic analysis of 76 Spanish Pompe disease patients: Identification of 12 novel pathogenic GAA variants and functional characterization of splicing variants

Gene ◽  
2021 ◽  
pp. 145967
Author(s):  
Cinthia Amiñoso ◽  
Jesús Solera
Keyword(s):  
Genetic Analysis ◽  
Pompe Disease ◽  
Functional Characterization ◽  
Splicing Variants

In vitro functional characterization of splicing variants of the APOB gene found in familial hypobetalipoproteinemia

2019 ◽  
Vol 13 (6) ◽  
pp. 960-969
Author(s):  
Claudio Rabacchi ◽  
Maria Luisa Simone ◽  
Livia Pisciotta ◽  
Enza Di Leo ◽  
Davide Bocchi ◽  
...  
Keyword(s):  
Functional Characterization ◽  
Apob Gene ◽  
Splicing Variants ◽  
Familial Hypobetalipoproteinemia

Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease

2008 ◽  
Vol 29 (6) ◽  
pp. E27-E36 ◽  
Author(s):  
MG Pittis ◽  
M Donnarumma ◽  
ALE Montalvo ◽  
S Dominissini ◽  
M Kroos ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Functional Characterization

Genetic Analysis of 17 Children with Hunter Syndrome: Identification and Functional Characterization of Four Novel Mutations in the Iduronate-2-Sulfatase Gene

2014 ◽  
Vol 41 (4) ◽  
pp. 197-203 ◽  
Author(s):  
Dimitry A. Chistiakov ◽  
Lyudmila M. Kuzenkova ◽  
Kirill V. Savost'anov ◽  
Anait K. Gevorkyan ◽  
Alexander A. Pushkov ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Functional Characterization ◽  
Hunter Syndrome ◽  
Novel Mutations

Genetic analysis and functional characterization of polymorphisms in the human concentrative nucleoside transporter, CNT2

2005 ◽  
Vol 15 (2) ◽  
pp. 83-90 ◽  
Author(s):  
Ryan P. Owen ◽  
Jennifer H. Gray ◽  
Travis R. Taylor ◽  
Elaine J. Carlson ◽  
Conrad C. Huang ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Functional Characterization ◽  
Nucleoside Transporter ◽  
Concentrative Nucleoside Transporter

Congenital coagulation factor X deficiency: Genetic analysis of five patients and functional characterization of mutant factor X proteins

Haemophilia ◽  
2018 ◽  
Vol 24 (5) ◽  
pp. 774-785 ◽  
Author(s):  
Satomi Nagaya ◽  
Masashi Akiyama ◽  
Morika Murakami ◽  
Akiko Sekiya ◽  
Hidesaku Asakura ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Functional Characterization ◽  
Coagulation Factor ◽  
Factor X ◽  
Factor X Deficiency
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