Cargando…
Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population
BACKGROUND: The Hutterites are a religious isolate living in colonies across the North American prairies. This population originated from approximately 90 founders, resulting in a number of genetic diseases that are overrepresented, underrepresented, or unique. The founder effect in this population...
Autores principales: | Triggs‐Raine, Barbara, Dyck, Tamara, Boycott, Kym M., Innes, A. Micheil, Ober, Carole, Parboosingh, Jillian S., Botkin, Alexis, Greenberg, Cheryl R., Spriggs, Elizabeth L. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2016
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867565/ https://www.ncbi.nlm.nih.gov/pubmed/27247959 http://dx.doi.org/10.1002/mgg3.206 |
Ejemplares similares
-
Parent-of-origin effects on quantitative phenotypes in a large Hutterite pedigree
por: Mozaffari, Sahar V., et al.
Publicado: (2019) -
Intellectual disability associated with a homozygous missense mutation in THOC6
por: Beaulieu, Chandree L, et al.
Publicado: (2013) -
Pathogenicity of two COQ7 mutations and responses to 2,4‐dihydroxybenzoate bypass treatment
por: Wang, Ying, et al.
Publicado: (2017) -
Optimizing genotype quality metrics for individual exomes and cohort analysis
por: Gordon, Paul MK, et al.
Publicado: (2012) -
Identification of CHIP as a Novel Causative Gene for Autosomal Recessive Cerebellar Ataxia
por: Shi, Yuting, et al.
Publicado: (2013)