Exome sequencing of choreoacanthocytosis reveals novel mutations in VPS13A and co-mutation in modifier gene(s)

Choreoacanthocytosis, one of the forms of neuroacanthocytosis, is caused by mutations in vacuolar protein sorting-associated protein A (VPS13A), and is often misdiagnosed with other form of neuroacanthocytosis with discrete genetic defects. The phenotypic variations among the patients with VPS13A mu...

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Detalles Bibliográficos
Autores principales: Chaudhari, Sima, Ware, Akshay Pramod, Jasti, Dushyanth Babu, Gorthi, Sankar Prasad, Acharya, Lavanya Prakash, Bhat, Manoj, Mallya, Sandeep, Satyamoorthy, Kapaettu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10227119/
https://www.ncbi.nlm.nih.gov/pubmed/37209156
http://dx.doi.org/10.1007/s00438-023-02032-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10227119/
https://www.ncbi.nlm.nih.gov/pubmed/37209156
http://dx.doi.org/10.1007/s00438-023-02032-2

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