ID
45447
Beschrijving
Principal Investigator: Margit Burmeister, PhD, University of Michigan, Ann Arbor, MI, USA MeSH: Ataxia https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000757 Ataxias are a group of diseases that result in a lack of coordinated muscle movement. Hereditary ataxias are genetically heterogeneous and it is reported that 40% of suspected genetic ataxias currently have an unknown cause. We used exome sequencing to detect mutations responsible for ataxia. We sequenced, when available, multiple individuals per family to identify family specific mutations and further confirmed segregation of variants using samples from available affected and unaffected family members.
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Versies (1)
- 07-12-22 07-12-22 - Chiara Middel
Houder van rechten
Margit Burmeister, PhD, University of Michigan, Ann Arbor, MI, USA
Geüploaded op
7 december 2022
DOI
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Licentie
Creative Commons BY 4.0
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dbGaP phs000757 Ataxia Gene Identification by Integrated Genomic Analysis
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