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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Cold Spring Harb Mol Case Stud
Egile Nagusiak: Delpire, Eric, Wolfe, Lynne, Flores, Bianca, Koumangoye, Rainelli, Schornak, Cara C., Omer, Salma, Pusey, Barbara, Lau, Christopher, Markello, Thomas, Adams, David R.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Cold Spring Harbor Laboratory Press 2016
Gaiak:
Research Article
Sarrera elektronikoa: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
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak