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Title:

Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.

Document type:
Journal Article
Author(s):
Tan, Jing; Wagner, Matias; Stenton, Sarah L; Strom, Tim M; Wortmann, Saskia B; Prokisch, Holger; Meitinger, Thomas; Oexle, Konrad; Klopstock, Thomas
Abstract:
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 risk of all known autosomal recessive mitochondrial disorders on basis of genetic data. METHODS: We queried the publicly available Genome Aggregation Database (gnomAD) and our in-house exome database to...     »
Journal title abbreviation:
EBioMedicine
Year:
2020
Journal volume:
54
Fulltext / DOI:
doi:10.1016/j.ebiom.2020.102730
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/32305867
TUM Institution:
617; Institut für Humangenetik
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