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)....

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Detalles Bibliográficos
Autores principales: Lone, Anna Mari, Leidl, Mathias, McFedries, Amanda K., Horner, James W., Creemers, John, Saghatelian, Alan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
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

Internet

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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