Identifying putative promoter regions of Hermansky-Pudlak syndrome genes by means of phylogenetic footprinting

HPS is an autosomal recessive disorder characterized by oculocutaneous albinism and prolonged bleeding. Eight human genes are described resulting in the HPS subtypes 1–8. Certain HPS proteins combine to form Biogenesis of Lysosome-related Organelles Complexes (BLOCs), thought to function in the form...

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Hauptverfasser: Stanescu, H., Wolfsberg, T.G., Moreland, R.T., Ayub, M.H., Erickson, E., Westbroek, W., Huizing, M., Gahl, W.A., Helip-Wooley, A.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2009
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2730976/
https://ncbi.nlm.nih.gov/pubmed/19523149
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1469-1809.2009.00525.x
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