The mouse pale ear (ep) mutation is the homologue of human Hermansky–Pudlak syndrome

The recessive mutation at the pale ear (ep) locus on mouse chromosome 19 was found to be the homologue of human Hermansky–Pudlak syndrome (HPS). A positional cloning strategy using yeast artificial chromosomes spanning the HPS locus was used to identify the HPS gene and its murine counterpart. These...

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Veröffentlicht in:	Proc Natl Acad Sci U S A
Hauptverfasser:	Gardner, John M., Wildenberg, Scott C., Keiper, Natalie M., Novak, Edward K., Rusiniak, Michael E., Swank, Richard T., Puri, Neelu, Finger, Joshua N., Hagiwara, Nobuko, Lehman, Anne L., Gales, Tracy L., Bayer, Manfred E., King, Richard A., Brilliant, Murray H.
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	National Academy of Sciences 1997
Schlagworte:	Biological Sciences
Online-Zugang:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC23134/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/9256466/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.94.17.9238
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The mouse pale ear (ep) mutation is the homologue of human Hermansky–Pudlak syndrome

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