Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann–Pick disease type C1

While homozygous pathogenic mutations in the NPC1 gene cause Niemann-Pick type C1 disease, heterozygous mutations cause highly-penetrant obesity. We aimed to investigate the prevalence of NPC1 mutations and their signatures of natural selection in 122,678 exome sequenced participants from six ethnic...

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Detalles Bibliográficos
Autores principales: Chiorean, Andreea, Garver, William S., Meyre, David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7608643/
https://www.ncbi.nlm.nih.gov/pubmed/33139814
http://dx.doi.org/10.1038/s41598-020-75919-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7608643/
https://www.ncbi.nlm.nih.gov/pubmed/33139814
http://dx.doi.org/10.1038/s41598-020-75919-4

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