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

scholarly journals Functional characterization of novel mutations in the human cytochrome b gene

2001 ◽  
Vol 9 (7) ◽  
pp. 510-518 ◽  
Author(s):  
Frédéric Legros ◽  
Evi Chatzoglou ◽  
Paule Frachon ◽  
Hélène Ogier de Baulny ◽  
Pascal Laforêt ◽  
...  
Keyword(s):  
Cytochrome B ◽  
Functional Characterization ◽  
Cytochrome B Gene ◽  
Novel Mutations ◽  
Human Cytochrome

scholarly journals Identification and Functional Characterization of Novel Mutations in the Melanocortin-4 Receptor

Obesity Facts ◽  
2010 ◽  
Vol 3 (5) ◽  
pp. 304-311 ◽  
Author(s):  
Sigri Beckers ◽  
Doreen Zegers ◽  
Fenna de Freitas ◽  
Armand V. Peeters ◽  
Stijn L. Verhulst ◽  
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Keyword(s):  
Functional Characterization ◽  
Novel Mutations ◽  
Melanocortin 4 Receptor

Functional Characterization of Novel Mutations Affecting Survivin (BIRC5)-Mediated Therapy Resistance in Head and Neck Cancer Patients

2012 ◽  
Vol 34 (2) ◽  
pp. 395-404 ◽  
Author(s):  
Shirley K. Knauer ◽  
Britta Unruhe ◽  
Sarah Karczewski ◽  
Rouven Hecht ◽  
Verena Fetz ◽  
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Keyword(s):  
Head And Neck Cancer ◽  
Head And Neck ◽  
Cancer Patients ◽  
Neck Cancer ◽  
Functional Characterization ◽  
Therapy Resistance ◽  
Novel Mutations
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