Cargando…
Penetrance of eye defects in mice heterozygous for mutation of Gli3 is enhanced by heterozygous mutation of Pax6
BACKGROUND: Knowledge of the consequences of heterozygous mutations of developmentally important genes is important for understanding human genetic disorders. The Gli3 gene encodes a zinc finger transcription factor and homozygous loss-of-function mutations of Gli3 are lethal. Humans heterozygous fo...
Autores principales: | Zaki, Paulette A, Collinson, J Martin, Toraiwa, Junko, Simpson, T Ian, Price, David J, Quinn, Jane C |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2006
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1618390/ https://www.ncbi.nlm.nih.gov/pubmed/17029624 http://dx.doi.org/10.1186/1471-213X-6-46 |
Ejemplares similares
-
Case of aniridia with a heterozygous PAX6 mutation in which the glucagon response to arginine was evaluated
por: Osawa, Saeko, et al.
Publicado: (2015) -
Mitochondrial dysfunction and mitophagy defect triggered by heterozygous GBA mutations
por: Li, Hongyu, et al.
Publicado: (2018) -
Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
por: Choi, Ji Young, et al.
Publicado: (2018) -
Compound heterozygous GLI3 variants in siblings with thyroid hemiagenesis
por: Szczepanek-Parulska, Ewelina, et al.
Publicado: (2020) -
Heterozygous mutations in PALB2 cause DNA replication and damage response defects
por: Nikkilä, Jenni, et al.
Publicado: (2013)