Interpretation of SLC3A1 and SLC7A9 variants in cystinuria patients: The significance of the PM3 criterion and protein stability

Cystinuria is a genetic disorder caused by defects in the b(0,+) transporter system, which is composed of rBAT and b(0,+)AT coded by SLC3A1 and SLC7A9, respectively. Variants in SLC3A1 and SLC7A9 follow autosomal recessive inheritance and autosomal dominant inheritance with reduced penetrance, respe...

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Detalles Bibliográficos
Autores principales: Lee, Beomki, Lee, Soo-Youn, Han, Deok Hyun, Park, Hyung-Doo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10345071/
https://www.ncbi.nlm.nih.gov/pubmed/37439839
http://dx.doi.org/10.1007/s00240-023-01466-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10345071/
https://www.ncbi.nlm.nih.gov/pubmed/37439839
http://dx.doi.org/10.1007/s00240-023-01466-y

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