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Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism
Many Mendelian traits are likely unrecognized owing to absence of traditional segregation patterns in families due to causation by de novo mutations, incomplete penetrance, and/or variable expressivity. Genome-level sequencing can overcome these complications. Extreme childhood phenotypes are promis...
Autores principales: | , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
eLife Sciences Publications, Ltd
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4408447/ https://www.ncbi.nlm.nih.gov/pubmed/25907736 http://dx.doi.org/10.7554/eLife.06315 |