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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)....
Tallennettuna:
| Päätekijät: | , , , , , |
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| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Public Library of Science
2014
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3938459/ https://ncbi.nlm.nih.gov/pubmed/24586561 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0089160 |
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