Cargando…
A comprehensive in silico analysis, distribution and frequency of human Nkx2-5 mutations; A critical gene in congenital heart disease
Introduction: Congenital heart disease (CHD) affects 1% to 2 % of live births. The Nkx2-5 gene, is known as the significant heart marker during embryonic evolution and it is also necessary for the survival of cardiomyocytes and homeostasis in adulthood. In this study, Nkx2-5 mutations are investigat...
Autores principales: | Kalayinia, Samira, Ghasemi, Serwa, Mahdieh, Nejat |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Tabriz University of Medical Sciences
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6891041/ https://www.ncbi.nlm.nih.gov/pubmed/31824610 http://dx.doi.org/10.15171/jcvtr.2019.47 |
Ejemplares similares
-
A novel de novo dominant mutation of NOTCH1 gene in an Iranian family with non‐syndromic congenital heart disease
por: Kalayinia, Samira, et al.
Publicado: (2019) -
A novel stop-gain pathogenic variant in FLT4 and a nonsynonymous pathogenic variant in PTPN11 associated with congenital heart defects
por: Tabib, Avisa, et al.
Publicado: (2022) -
GATA4 screening in Iranian patients of various ethnicities affected with congenital heart disease: Co‐occurrence of a novel de novo translocation (5;7) and a likely pathogenic heterozygous GATA4 mutation in a family with autosomal dominant congenital heart disease
por: Kalayinia, Samira, et al.
Publicado: (2019) -
An Iranian Congenital Adrenal Hypoplasia Patient with Elevated Testosterone in Infancy due to a Novel Pathogenic Frameshift Variant in NR0B1
por: Kalayinia, Samira, et al.
Publicado: (2021) -
Investigation of somatic NKX2-5 mutations in congenital heart disease
por: Draus, J M, et al.
Publicado: (2009)