Found: 6
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A new SLC12A3 founder mutation (p.Val647Met) in Gitelman's syndrome patients of Roma ancestry.
- Published in:
- Nefrologia, 2017, v. 37, n. 4, p. 423, doi. 10.1016/j.nefro.2017.01.007
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- Article
Signification of distal urinary acidification defects in hypocitraturic patients.
- Published in:
- PLoS ONE, 2017, v. 12, n. 5, p. 1, doi. 10.1371/journal.pone.0177329
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- Article
PHACTR1 Is a Genetic Susceptibility Locus for Fibromuscular Dysplasia Supporting Its Complex Genetic Pattern of Inheritance.
- Published in:
- PLoS Genetics, 2016, v. 12, n. 10, p. 1, doi. 10.1371/journal.pgen.1006367
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- Article
Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences.
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- Journal of Clinical Endocrinology & Metabolism, 2016, v. 101, n. 5, p. 2185, doi. 10.1210/jc.2015-3442
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- Article
Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families.
- Published in:
- Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 3, p. 303, doi. 10.1002/mgg3.205
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- Article
Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.
- Published in:
- Human Mutation, 2015, v. 36, n. 8, p. 743, doi. 10.1002/humu.22804
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- Article