| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8476886 | Molecular and Cellular Endocrinology | 2015 | 10 Pages |
Abstract
Our luciferase-reporter assay, developed for assessment of KAL1 mutations, determined that two variants in females with hypopituitarism/SOD are loss-of-function; demonstrating that this assay is suitable for quantitative assessment of mutations in this gene.
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Authors
Mark J. McCabe, Youli Hu, Louise C. Gregory, Carles Gaston-Massuet, Kyriaki S. Alatzoglou, José W. Saldanha, Angelica Gualtieri, Ajay Thankamony, Ieuan Hughes, Sharron Townshend, Juan-Pedro Martinez-Barbera, Pierre-Marc Bouloux, Mehul T. Dattani,