CLINICAL CASE OF COMBINED GENETIC PATHOLOGY IN A PATIENT
Keywords:
gene mutation, genetic testing, familial hypercholesterolemia, Gilbert’s syndrome.
Abstract
CLINICAL CASE OF COMBINED GENETIC PATHOLOGY IN A PATIENT
References
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2. Sharifi M., Rakhit R. D., Humphries S. E., Nair D. Cardiovascular risk stratification in familial hypercholesterolaemia // Heart. 2016; 102(13): 1003-1008.
3. Claridge L. C., Armstrong M. J., Booth C. et al. Gilbert’s syndrome // BMJ. 2011; 342: d2293.
4. Farheen S., Sengupta S., Santra A. et al. Gilbert’s syndrome: High frequency of the (TA)7 TAA allele in India and its interaction with a novel CAT insertion in promoter of the gene for bilirubin UDP-glucuronosyltransferase 1 gene // World Journal of Gastroenterology. 2006; 12(14): 2269-2275.
5. Emel’yanova E.S. Familial hypercholesterolemia-diagnostic aspects of the disease and methods of treatment at the present stage// Nauchnoe soobshchestvo studentov: Mezhdisciplinarnye issledovaniya: sb. st. po mat. XXVII mezhdunar. stud. nauch.-prakt. konf. № 16(27) URL: https://sibac.info/archive/meghdis/16(27).pdf (accessed date: 12.09.2019).
6. Henderson R., O’Kane M., McGilligan V., Watterson S. The genetics and screening of familial hypercholesterolaemia // Journal of Biomedical Science. 2016; 23: 39.
7. Vítek L. Bilirubin and Atherosclerotic Diseases // Physiol. 2017; 66(1): 11-20.
2. Sharifi M., Rakhit R. D., Humphries S. E., Nair D. Cardiovascular risk stratification in familial hypercholesterolaemia // Heart. 2016; 102(13): 1003-1008.
3. Claridge L. C., Armstrong M. J., Booth C. et al. Gilbert’s syndrome // BMJ. 2011; 342: d2293.
4. Farheen S., Sengupta S., Santra A. et al. Gilbert’s syndrome: High frequency of the (TA)7 TAA allele in India and its interaction with a novel CAT insertion in promoter of the gene for bilirubin UDP-glucuronosyltransferase 1 gene // World Journal of Gastroenterology. 2006; 12(14): 2269-2275.
5. Emel’yanova E.S. Familial hypercholesterolemia-diagnostic aspects of the disease and methods of treatment at the present stage// Nauchnoe soobshchestvo studentov: Mezhdisciplinarnye issledovaniya: sb. st. po mat. XXVII mezhdunar. stud. nauch.-prakt. konf. № 16(27) URL: https://sibac.info/archive/meghdis/16(27).pdf (accessed date: 12.09.2019).
6. Henderson R., O’Kane M., McGilligan V., Watterson S. The genetics and screening of familial hypercholesterolaemia // Journal of Biomedical Science. 2016; 23: 39.
7. Vítek L. Bilirubin and Atherosclerotic Diseases // Physiol. 2017; 66(1): 11-20.
Published
2019-11-07
How to Cite
Yakushina, I., Skhirtladze, M., Balahonova, N., Ivashkin, V., Losik, E., Kerchev, V., Garanina, I., Chekryzhova, D., & Sechenov, I. (2019). CLINICAL CASE OF COMBINED GENETIC PATHOLOGY IN A PATIENT. Biological Markers in Fundamental and Clinical Medicine (scientific Journal), 3(1), 36-37. https://doi.org/10.29256/v.03.01.2019.escbm21
Section
Selected abstracts

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