Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype

Maintenance of the correct redox status of iron is functionally important for critical biological processes. Multicopper ferroxidases play an important role in oxidizing ferrous iron, released from the cells, into ferric iron, which is subsequently distributed by transferrin. Two well-characterized...

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Detalles Bibliográficos
Autores principales: Sharma, Prashant, Reichert, Marie, Lu, Yan, Markello, Thomas C., Adams, David R., Steinbach, Peter J., Fuqua, Brie K., Parisi, Xenia, Kaler, Stephen G., Vulpe, Christopher D., Anderson, Gregory J., Gahl, William A., Malicdan, May Christine V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6534290/
https://www.ncbi.nlm.nih.gov/pubmed/31125343
http://dx.doi.org/10.1371/journal.pgen.1008143

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6534290/
https://www.ncbi.nlm.nih.gov/pubmed/31125343
http://dx.doi.org/10.1371/journal.pgen.1008143

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