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...

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Detalhes bibliográficos
Publicado no:eLife
Main Authors: Scholl, Ute I, Stölting, Gabriel, Nelson-Williams, Carol, Vichot, Alfred A, Choi, Murim, Loring, Erin, Prasad, Manju L, Goh, Gerald, Carling, Tobias, Juhlin, C Christofer, Quack, Ivo, Rump, Lars C, Thiel, Anne, Lande, Marc, Frazier, Britney G, Rasoulpour, Majid, Bowlin, David L, Sethna, Christine B, Trachtman, Howard, Fahlke, Christoph, Lifton, Richard P
Formato: Artigo
Idioma:Inglês
Publicado em: eLife Sciences Publications, Ltd 2015
Assuntos:
Genes and Chromosomes
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4408447/
https://ncbi.nlm.nih.gov/pubmed/25907736
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7554/eLife.06315
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