Identification of two compound heterozygous VPS13A large deletions in chorea-acanthocytosis only by protein and quantitative DNA analysis
<br><strong>Background: </strong>Chorea‐acanthocytosis (ChAc; OMIM #200150) is a rare autosomal recessive condition with onset in early adulthood that is caused by mutations in the vacuolar protein sorting 13A (VPS13A) gene encoding chorein. Several diagnostic genomic DNA (gDNA) se...
| Autores principales: | , , , , , , , , |
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| Formato: | Journal article |
| Lenguaje: | English |
| Publicado: |
Wiley
2020
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