Cargando…
A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder
We conducted blinded psychiatric assessments of 26 Amish subjects (52 ± 11 years) from four families with prevalent bipolar spectrum disorder, identified 10 potentially pathogenic alleles by exome sequencing, tested association of these alleles with clinical diagnoses in the larger Amish Study of Ma...
Autores principales: | Strauss, Kevin A., Markx, Sander, Georgi, Benjamin, Paul, Steven M., Jinks, Robert N., Hoshi, Toshinori, McDonald, Ann, First, Michael B., Liu, Wencheng, Benkert, Abigail R., Heaps, Adam D., Tian, Yutao, Chakravarti, Aravinda, Bucan, Maja, Puffenberger, Erik G. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2014
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4222358/ https://www.ncbi.nlm.nih.gov/pubmed/24986916 http://dx.doi.org/10.1093/hmg/ddu335 |
Ejemplares similares
-
Eighteen-years follow-up of congenital hypothyroidism by TSHR gene p.Arg109Gln and p.Arg450His variants
por: Watanabe, Daisuke, et al.
Publicado: (2023) -
Comprehensive Phenotype of the p.Arg420his Allelic Form of Spinocerebellar Ataxia Type 13
por: Subramony, SH, et al.
Publicado: (2013) -
Lung function and disease severity in cystic fibrosis patients heterozygous for p.Arg117His
por: Shteinberg, Michal, et al.
Publicado: (2017) -
TP53 p.Arg337His geographic distribution correlates with adrenocortical tumor occurrence
por: Seidinger, Ana L., et al.
Publicado: (2020) -
SAT-087 Familial Generalized Lipodystrophy in Two Siblings Due to Homozygous p.Arg545His LMNA Mutation
por: Patni, Nivedita, et al.
Publicado: (2019)