A patient with multisystem dysfunction carries a truncation mutation in human SLC12A2, the gene encoding the Na-K-2Cl cotransporter, NKCC1

This study describes a 13-yr-old girl with orthostatic intolerance, respiratory weakness, multiple endocrine abnormalities, pancreatic insufficiency, and multiorgan failure involving the gut and bladder. Exome sequencing revealed a de novo, loss-of-function allele in SLC12A2, the gene encoding the N...

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Detalhes bibliográficos
Publicado no:Cold Spring Harb Mol Case Stud
Main Authors: Delpire, Eric, Wolfe, Lynne, Flores, Bianca, Koumangoye, Rainelli, Schornak, Cara C., Omer, Salma, Pusey, Barbara, Lau, Christopher, Markello, Thomas, Adams, David R.
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2016
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5111002/
https://ncbi.nlm.nih.gov/pubmed/27900370
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a001289
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