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...

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Detalles Bibliográficos
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:
Article
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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4642522/
https://www.ncbi.nlm.nih.gov/pubmed/26278626
http://dx.doi.org/10.1038/srep13050

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