Cargando…
Functional characterization of genetic variants in NPC1L1 supports the sequencing extremes strategy to identify complex trait genes
Resequencing genes in individuals at extremes of the population distribution constitutes a powerful and efficient strategy to identify sequence variants associated with complex traits. An excess of sequence variants at one extreme relative to the other that is not due to chance or to population stra...
Autores principales: | Fahmi, Saleemah, Yang, Chendong, Esmail, Sophie, Hobbs, Helen H., Cohen, Jonathan C. |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2008
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2441721/ https://www.ncbi.nlm.nih.gov/pubmed/18413323 http://dx.doi.org/10.1093/hmg/ddn108 |
Ejemplares similares
-
Identification and Classification of Rare Variants in NPC1 and NPC2 in Quebec
por: Touma, Lahoud, et al.
Publicado: (2021) -
Simulations of NPC1(NTD):NPC2 Protein Complex Reveal Cholesterol Transfer Pathways
por: Hodošček, Milan, et al.
Publicado: (2018) -
Niemann-Pick C1 (NPC1)/NPC1-like1 Chimeras Define Sequences Critical for NPC1’s Function as a Filovirus Entry Receptor
por: Krishnan, Anuja, et al.
Publicado: (2012) -
Inter-domain dynamics drive cholesterol transport by NPC1 and NPC1L1 proteins
por: Saha, Piyali, et al.
Publicado: (2020) -
Determination of the Pathological Features of NPC1 Variants in a Cellular Complementation Test
por: Feng, Xiao, et al.
Publicado: (2019)