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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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Pubblicato in:Proc Natl Acad Sci U S A
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: National Academy of Sciences 1997
Soggetti:
Biological Sciences
Accesso online: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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