A cell function study on calcium regulation of a novel calcium-sensing receptor mutation (p.Tyr825Phe)

PURPOSE: Autosomal dominant hypocalcemia with hypercalciuria is a genetic disease characterized by hypoparathyroidism with hypercalciuria. We discovered a novel variant (p.Tyr825Phe[Y825F]) of the <i>CASR</i> gene in a neonate with congenital hypoparathyroidism and hypercalciuria and con...

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Detalles Bibliográficos
Autores principales: Moon, Jung Eun, Yang, Hee-Young, Wee, Gabbine, ParK, Suk-Hyun, Ko, Cheol Woo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society of Pediatric Endocrinology 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8026336/
https://www.ncbi.nlm.nih.gov/pubmed/32871647
http://dx.doi.org/10.6065/apem.2040022.011

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8026336/
https://www.ncbi.nlm.nih.gov/pubmed/32871647
http://dx.doi.org/10.6065/apem.2040022.011

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