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Paper Title
Dominant negative mutation in oxalate transporter associated with enteric hyperoxaluria and nephrolithiasis.
PubMed
Paper Journal Title
Journal of Medical Genetics
Paper Citation Count
6
Paper Publication Year
2022
Bio Mention
Cl, Hyperoxaluria, NL, Nephrolithiasis, SLC26A6, c.1519C, calcium, calcium oxalate, calcium oxalate NL, cell, cell culture, enteric hyperoxaluria, exome, haploinsufficiency, human, hyperoxaluria, inherited enteric hyperoxaluria, mouse, multifactorial disease, mutant SLC26A6, nephrolithiasis, oxalate, oxalate transporter, patient, patients, secretory oxalate transporter
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Author Name
Affiliation
Philippe Froguel
INSERM CNRS University of Lille
Amélie Bonnefond
INSERM CNRS University of Lille
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