Is Gauchian genotyping of GBA1 variants reliable?

Biallelic mutations in GBA1 result in Gaucher disease (GD), the inherited deficiency of glucocerebrosidase. Variants in GBA1 are also a common genetic risk factor for Parkinson disease (PD). Currently, some PD centers screen for mutant GBA1 alleles to stratify patients who may ultimately benefit fro...

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Detalles Bibliográficos
Autores principales: Tayebi, Nahid, Lichtenberg, Jens, Hertz, Ellen, Sidransky, Ellen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10659459/
https://www.ncbi.nlm.nih.gov/pubmed/37986861
http://dx.doi.org/10.1101/2023.10.26.23297627

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10659459/
https://www.ncbi.nlm.nih.gov/pubmed/37986861
http://dx.doi.org/10.1101/2023.10.26.23297627

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