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UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy.
Download from academic.oup.comGenetic mapping studies of familial juvenile hyperuricemic nephropathy on chromosome 16p11-p13.
Download from academic.oup.comHRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.
UploadGenetic contribution to renal function and electrolyte balance: a twin study
Download from www.clinsci.orgFrequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1.
Download from academic.oup.comUrinary megalin deficiency implicates abnormal tubular endocytic function in Fanconi syndrome
UploadSomatic mutations in MEN type 1 tumors, consistent with the Knudson "two-hit" hypothesis.
Download from academic.oup.comX-linked hypophosphatemia attributable to pseudoexons of the PHEX gene.
Download from academic.oup.comThe hyperparathyroidism-jaw tumour syndrome in a Portuguese kindred.
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