Found: 6
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Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for renin.
- Published in:
- Life Science Alliance, 2022, v. 5, n. 4, p. 1, doi. 10.26508/lsa.202101150
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- Publication type:
- Article
Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Autosomal dominant tubulointerstitial kidney disease: A review.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 3, p. 309, doi. 10.1002/ajmg.c.32008
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- Publication type:
- Article
The utility of a genetic kidney disease clinic employing a broad range of genomic testing platforms: experience of the Irish Kidney Gene Project.
- Published in:
- Journal of Nephrology (JNonline), 2022, v. 35, n. 6, p. 1655, doi. 10.1007/s40620-021-01236-2
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- Publication type:
- Article
Renal transplant outcomes in patients with autosomal dominant tubulointerstitial kidney disease.
- Published in:
- Clinical Transplantation, 2020, v. 34, n. 2, p. N.PAG, doi. 10.1111/ctr.13783
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- Publication type:
- Article
Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 18, p. 4062, doi. 10.1093/hmg/ddw245
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- Publication type:
- Article