Very Low Vitamin D in a Patient With a Novel Pathogenic Variant in the GC Gene That Encodes Vitamin D-Binding Protein

Circulating plasma vitamin D metabolites are highly bound to vitamin D-binding protein (DBP), also known as group-specific component or Gc-globulin. DBP, encoded by the GC gene, is a member of the albumin family of globular serum transport proteins. We previously described a homozygous GC gene delet...

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Detalles Bibliográficos
Autores principales: Banerjee, Ronadip R, Spence, Tara, Frank, Stuart J, Pandian, Raj, Hoofnagle, Andrew N, Argiropoulos, Bob, Marcadier, Julien L
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8362819/
https://www.ncbi.nlm.nih.gov/pubmed/34589658
http://dx.doi.org/10.1210/jendso/bvab104

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8362819/
https://www.ncbi.nlm.nih.gov/pubmed/34589658
http://dx.doi.org/10.1210/jendso/bvab104

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