ID
45447
Descripción
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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Versiones (1)
- 7/12/22 7/12/22 - Chiara Middel
Titular de derechos de autor
Margit Burmeister, PhD, University of Michigan, Ann Arbor, MI, USA
Subido en
7 de diciembre de 2022
DOI
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Licencia
Creative Commons BY 4.0
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dbGaP phs000757 Ataxia Gene Identification by Integrated Genomic Analysis
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