Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3

2011 ◽  
Vol 33 (1) ◽  
pp. 189-197 ◽  
Author(s):  
Brandon Itzkovitz ◽  
Sarn Jiralerspong ◽  
Graeme Nimmo ◽  
Melissa Loscalzo ◽  
Dafne D. G. Horovitz ◽  
...  
Keyword(s):  
Functional Characterization ◽  
Chondrodysplasia Punctata ◽  
Novel Mutations ◽  
Rhizomelic Chondrodysplasia Punctata

scholarly journals Erratum: Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation

2014 ◽  
Vol 59 (7) ◽  
pp. 417-417
Author(s):  
Masafumi Noguchi ◽  
Masanori Honsho ◽  
Yuichi Abe ◽  
Ryusuke Toyama ◽  
Hajime Niwa ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Functional Characterization ◽  
Chondrodysplasia Punctata ◽  
Rhizomelic Chondrodysplasia Punctata ◽  
Mild Reduction

scholarly journals Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation

2014 ◽  
Vol 59 (7) ◽  
pp. 387-392 ◽  
Author(s):  
Masafumi Noguchi ◽  
Masanori Honsho ◽  
Yuichi Abe ◽  
Ryusuke Toyama ◽  
Hajime Niwa ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Functional Characterization ◽  
Chondrodysplasia Punctata ◽  
Rhizomelic Chondrodysplasia Punctata ◽  
Mild Reduction

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 ◽  
...  
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 ◽  
...  
Keyword(s):  
Head And Neck Cancer ◽  
Head And Neck ◽  
Cancer Patients ◽  
Neck Cancer ◽  
Functional Characterization ◽  
Therapy Resistance ◽  
Novel Mutations

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
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