Associated Papers
Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.
Pierce SE et al.
Nature, 2025
41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen
Atypical fundoscopic manifestation with good visual prognosis in familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Girón-Ortega M et al.
Ophthalmic Genetics, 2024
Familial non-syndromic macular pseudocoloboma secondary to homozygous CLDN19 mutation.
Khan AO et al.
Ophthalmic Genetics, 2018
Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations.
Yamaguti PM et al.
Journal of Medical Genetics, 2017
First report of a novel missense CLDN19 mutations causing familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a Chinese family.
Yuan T et al.
Calcified Tissue International, 2015
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: phenotype-genotype correlation and outcome in 32 patients with CLDN16 or CLDN19 mutations.
Godron A et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2012
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