Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency

Variants in the SPATA5 gene were recently described in a cohort of patients with global developmental delay, sensorineural hearing loss, seizures, cortical visual impairment and microcephaly. SPATA5 protein localizes predominantly in the mitochondria and is proposed to be involved in mitochondrial f...

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Detalles Bibliográficos
Autores principales: Puusepp, Sanna, Kovacs-Nagy, Reka, Alhaddad, Bader, Braunisch, Matthias, Hoffmann, Georg F., Kotzaeridou, Urania, Lichvarova, Lucia, Liiv, Mailis, Makowski, Christine, Mandel, Merle, Meitinger, Thomas, Pajusalu, Sander, Rodenburg, Richard J., Safiulina, Dzhamilja, Strom, Tim M., Talvik, Inga, Vaarmann, Annika, Wilson, Callum, Kaasik, Allen, Haack, Tobias B., Õunap, Katrin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838984/
https://www.ncbi.nlm.nih.gov/pubmed/29343804
http://dx.doi.org/10.1038/s41431-017-0001-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838984/
https://www.ncbi.nlm.nih.gov/pubmed/29343804
http://dx.doi.org/10.1038/s41431-017-0001-6

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