Spectrum of genomic variations in Indian patients with progressive familial intrahepatic cholestasis
Author:
Publisher
Springer Science and Business Media LLC
Subject
Gastroenterology,General Medicine
Link
http://link.springer.com/content/pdf/10.1186/s12876-018-0835-6.pdf
Reference49 articles.
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2. Klomp LW, Vargas JC, van Mil SW, Pawlikowska L, Strautnieks SS, van Eijk MJ, et al. Characterization of mutations in ATP8B1 associated with hereditary cholestasis. Hepatology. 2004;40:27–38. https://doi.org/10.1002/hep.20285 .
3. Strautnieks SS, Byrne JA, Pawlikowska L, Cebecauerova D, Rayner A, Dutton L, et al. Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families. Gastroenterology. 2008;134(4):1203–14. https://doi.org/10.1053/j.gastro.2008.01.038 .
4. Davit-Spraul A, Gonzales E, Baussan C, Jacquemin E. The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects. Semin Liver Dis. 2010;30:134–46. https://doi.org/10.1055/s-0030-1253223 .
5. Wang NL, Li LT, Wu BB, Gong JY, Abuduxikuer K, Li G, et al. The features of GGT in patients with ATP8B1 or ABCB11 deficiency improve the diagnostic efficiency. PLoS One. 2016;11:e0153114. https://doi.org/10.1371/journal.pone.0153114 .
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