Jaureguiberry, G;
De la Dure-Molla, M;
Parry, D;
Quentric, M;
Himmerkus, N;
Koike, T;
Poulter, J;
... Kleta, R; + view all
(2012)
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.
Nephron Physiology
, 122
(1-2)
1 - 6.
10.1159/000349989.
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Abstract
Calcium homeostasis requires regulated cellular and interstitial systems interacting to modulate the activity and movement of this ion. Disruption of these systems in the kidney results in nephrocalcinosis and nephrolithiasis, important medical problems whose pathogenesis is incompletely understood.
| Type: | Article |
|---|---|
| Title: | Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations |
| Location: | Switzerland |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1159/000349989 |
| Publisher version: | http://dx.doi.org/10.1159/000349989 |
| Language: | English |
| Additional information: | Open Access License: This is an Open Access article licensed under the terms of the Creative Commons Attribution 3.0 Unported license (CC BY 3.0) (www.karger.com/OA-license-WT), applicable to the online version of the article only. PMCID: PMC3782194 |
| Keywords: | Adolescent, Adult, Amelogenesis imperfecta, Child, Consanguinity, Dental enamel proteins, Exome, Family health, Female, Genes, Recessive, Genetic predisposition to disease, Genome-wide association study, Humans, Male, Middle aged, Mutation, Nephrocalcinosis, Pedigree, Sequence Analysis, DNA, Syndrome, Young Adult |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute > Research Department of Oncology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine > Renal Medicine |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1388316 |
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