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Exome sequencing identifies a novel frameshift variant causing hypomagnesemia with secondary hypocalcemia
Hypomagnesemia with secondary hypocalcemia is a rare autosomal-recessive disorder characterized by intense hypomagnesemia associated with hypocalcemia (HSH). Mutations in the TRPM6 gene, encoding the epithelial Mg(2+) channel TRPM6, have been proven to be the molecular cause of this disease. This st...
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| Publicado no: | CEN Case Rep |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Singapore
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6361088/ https://ncbi.nlm.nih.gov/pubmed/30144020 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13730-018-0362-x |
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