Cargando…
Point mutations in KAL1 and the mitochondrial gene MT-tRNA(cys) synergize to produce Kallmann syndrome phenotype
Kallmann syndrome (KS) is an inherited developmental disorder defined as the association of hypogonadotropic hypogonadism and anosmia or hyposmia. KS has been shown to be a genetically heterogeneous disease with different modes of inheritance. However, variants in any of the causative genes identifi...
Autores principales: | Wang, Fei, Huang, Guo-dong, Tian, Hui, Zhong, Ying-bin, Shi, Hui-juan, Li, Zheng, Zhang, Xian-sheng, Wang, Han, Sun, Fei |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2015
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4642522/ https://www.ncbi.nlm.nih.gov/pubmed/26278626 http://dx.doi.org/10.1038/srep13050 |
Ejemplares similares
-
Functional dissection of the Drosophila Kallmann's syndrome protein DmKal-1
por: Andrenacci, Davide, et al.
Publicado: (2006) -
Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life
por: Sarfati, Julie, et al.
Publicado: (2015) -
A novel nonsense mutation of the KAL1 gene (p.Trp204*) in Kallmann syndrome
por: El Husny, Antonette Souto, et al.
Publicado: (2014) -
A case of novel mutation in ANOS1 (KAL1) gene and review of Kallmann syndrome
por: Arora, Sumeet, et al.
Publicado: (2023) -
ANOS1: a unified nomenclature for Kallmann syndrome 1 gene (KAL1) and anosmin-1
por: de Castro, Fernando, et al.
Publicado: (2017)