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A patient with multisystem dysfunction carries a truncation mutation in human SLC12A2 , the gene encoding the Na-K-2Cl cotransporter, NKCC1
Delpire, Eric, Wolfe, Lynne, Flores, Bianca, Koumangoye, Rainelli, Schornak, Cara C., Omer, Salma, Pusey, Barbara, Lau, Christopher, Markello, Thomas, Adams, David R.Volume:
2
Language:
english
Journal:
Molecular Case Studies
DOI:
10.1101/mcs.a001289
Date:
November, 2016
File:
PDF, 2.31 MB
english, 2016