Identification of modifier gene variants overrepresented in familial hypomagnesemia with hypercalciu...
Identification of modifier gene variants overrepresented in familial hypomagnesemia with hypercalciuria and nephrocalcinosis patients with a more aggressive renal phenotype
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United States: Public Library of Science
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English
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United States: Public Library of Science
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Contents
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an ultra-rare autosomal recessive renal tubular disease with an incidence of <1/1.000.000 individuals, caused by loss-of-function mutations in CLDN16 and CLDN19 . Our study includes a unique cohort representing all known FHHNC patients in Spain, with 90% harbouring mutation...
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Full title
Identification of modifier gene variants overrepresented in familial hypomagnesemia with hypercalciuria and nephrocalcinosis patients with a more aggressive renal phenotype
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TN_cdi_doaj_primary_oai_doaj_org_article_1598c0df11c1456eb0e7cc1ea6f7b882
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_1598c0df11c1456eb0e7cc1ea6f7b882
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ISSN
1553-7404,1553-7390
E-ISSN
1553-7404
DOI
10.1371/journal.pgen.1011568
