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Paper Details

Biallelic loss-of-function variants in KCNJ16 presenting with hypokalemic metabolic acidosis.
Eur J Hum Genet
12
2021
K, K+, KCNJ10, KCNJ16, Kcnj16, Kcnj16-/-, Kir4, Kir4.1, Kir5, Kir5.1, Na, Na+, Na-K-ATPase, epithelial cells, hypokalemic metabolic acidosis, hypokalemic, hyperchloremic metabolic acidosis, metabolic acidosis, mice, patient, rats
Author NameAffiliation
Bryn D WebbIcahn School of Medicine at Mount Sinai
Bryn D WebbMindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai
Bryn D WebbIcahn School of Medicine at Mount Sinai
Bryn D WebbIcahn School of Medicine at Mount Sinai
Bryn D WebbIcahn School of Medicine at Mount Sinai
Bryn D WebbMindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai
Bruce D GelbIcahn School of Medicine at Mount Sinai
Bruce D GelbIcahn School of Medicine at Mount Sinai
Bruce D GelbMindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai
Bruce D GelbIcahn School of Medicine at Mount Sinai
Bruce D GelbIcahn School of Medicine at Mount Sinai
Bruce D GelbMindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai
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