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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Библиографические подробности
Опубликовано в: :Mol Genet Genomic Med
Главные авторы: Spieler, Derek, Velayos‐Baeza, Antonio, Mühlbäck, Alžbeta, Castrop, Florian, Maegerlein, Christian, Slotta‐Huspenina, Julia, Bader, Benedikt, Haslinger, Bernhard, Danek, Adrian
Формат: Artigo
Язык:Inglês
Опубликовано: John Wiley and Sons Inc. 2020
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Original Articles
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC7507471/
https://ncbi.nlm.nih.gov/pubmed/32056394
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1179
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