Identification of two compound heterozygous VPS13A large deletions in chorea‐acanthocytosis only by protein and quantitative DNA analysis

BACKGROUND: 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) sequencing approaches are widely used. Ho...

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Detalles Bibliográficos
Autores principales: Spieler, Derek, Velayos‐Baeza, Antonio, Mühlbäck, Alžbeta, Castrop, Florian, Maegerlein, Christian, Slotta‐Huspenina, Julia, Bader, Benedikt, Haslinger, Bernhard, Danek, Adrian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507471/
https://www.ncbi.nlm.nih.gov/pubmed/32056394
http://dx.doi.org/10.1002/mgg3.1179

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507471/
https://www.ncbi.nlm.nih.gov/pubmed/32056394
http://dx.doi.org/10.1002/mgg3.1179

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