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Mutations in TJP2 cause progressive cholestatic liver disease.
- Published in:
- Nature Genetics, 2014, v. 46, n. 4, p. 326, doi. 10.1038/ng.2918
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- Article
HEPATIC ADENOMA MIMICKING A LEYDIG-SERTOLI CELL TUMOR METASTASIS.
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- Pedijatrija Danas: Pediatrics Today, 2013, v. 9, n. 2, p. 201, doi. 10.5457/p2005-114.76
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- Article
Absence of linkage of the epithelial sodium channel to hypertension in black Caribbeans<sup>*</sup>.
- Published in:
- American Journal of Hypertension, 1998, v. 11, n. 8, p. 942, doi. 10.1016/S0895-7061(98)00092-2
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- Article
ATP8B1 Gene Expression Is Driven by a Housekeeping- Like Promoter Independent of Bile Acids and Farnesoid X Receptor.
- Published in:
- PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0051650
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- Article
A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis.
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- Nature Genetics, 1998, v. 20, n. 3, p. 233, doi. 10.1038/3034
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- Article
Localisation of Pseudohypoaldosteronism Genes to Chromosome 16p12.2–13.11 and 12p13.1-Pter by Homozygosity Mapping.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 2, p. 293, doi. 10.1093/hmg/5.2.293
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- Article
A novel arginine (245) to glutamine change in exon 8 of the ornithine carbamoyl transferase gene in two unrelated children presenting with late onset deficiency and showing the same enzymatic pattern.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 5, p. 831
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- Publication type:
- Article