The role of disease-linked residue glutamine-913 in support of the structure and function of the human electrogenic sodium/bicarbonate cotransporter NBCe1-A

Mutations in the sodium bicarbonate cotransporter NBCe1 (SLC4A4) cause proximal renal tubular acidosis (pRTA). We recently described a novel pRTA mutation p.Gln913Arg (Q913R), inherited in compound heterozygous form with p.Arg510His (R510H). Q913R causes intracellular retention of NBCe1 and a ‘gain...

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Detalles Bibliográficos
Autores principales: Myers, Evan J., Marshall, Aniko, Parker, Mark D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5814396/
https://www.ncbi.nlm.nih.gov/pubmed/29449648
http://dx.doi.org/10.1038/s41598-018-20488-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5814396/
https://www.ncbi.nlm.nih.gov/pubmed/29449648
http://dx.doi.org/10.1038/s41598-018-20488-w

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