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Clinical and pathologic phenotype of a large family with heterozygous STUB1 mutation
OBJECTIVE: To describe the clinical and pathologic features of a novel pedigree with heterozygous STUB1 mutation causing SCA48. METHODS: We report a large pedigree of Dutch decent. Clinical and pathologic data were reviewed, and genetic analyses (whole-exome sequencing, whole-genome sequencing, and...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Neurol Genet |
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| Κύριοι συγγραφείς: | , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Wolters Kluwer
2020
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7164971/ https://ncbi.nlm.nih.gov/pubmed/32337344 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000417 |
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