Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases

BACKGROUND: Mitochondrial disorders are a group of rare diseases, caused by nuclear or mitochondrial DNA mutations. Their marked clinical and genetic heterogeneity as well as referral and ascertainment biases render phenotype-based prevalence estimations difficult. Here we calculated the lifetime ri...

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Detalles Bibliográficos
Autores principales: Tan, Jing, Wagner, Matias, Stenton, Sarah L., Strom, Tim M., Wortmann, Saskia B., Prokisch, Holger, Meitinger, Thomas, Oexle, Konrad, Klopstock, Thomas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7163308/
https://www.ncbi.nlm.nih.gov/pubmed/32305867
http://dx.doi.org/10.1016/j.ebiom.2020.102730

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7163308/
https://www.ncbi.nlm.nih.gov/pubmed/32305867
http://dx.doi.org/10.1016/j.ebiom.2020.102730

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