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Deletion of Prepl Causes Growth Impairment and Hypotonia in Mice
Genetic studies of rare diseases can identify genes of unknown function that strongly impact human physiology. Prolyl endopeptidase-like (PREPL) is an uncharacterized member of the prolyl peptidase family that was discovered because of its deletion in humans with hypotonia-cystinuria syndrome (HCS)....
Autores principales: | Lone, Anna Mari, Leidl, Mathias, McFedries, Amanda K., Horner, James W., Creemers, John, Saghatelian, Alan |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2014
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3938459/ https://www.ncbi.nlm.nih.gov/pubmed/24586561 http://dx.doi.org/10.1371/journal.pone.0089160 |
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