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Human genome diversity data reveal that L564P is the predominant TPC2 variant and a prerequisite for the blond hair associated M484L gain-of-function effect
The endo-lysosomal two-pore channel (TPC2) has been established as an intracellular cation channel of significant physiological and pathophysiological relevance in recent years. For example, TPC2(-/-) mice show defects in cholesterol degradation, leading to hypercholesterinemia; TPC2 absence also re...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7845996/ https://www.ncbi.nlm.nih.gov/pubmed/33465068 http://dx.doi.org/10.1371/journal.pgen.1009236 |