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Medicina & Laboratorio

2023, Number 3

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Medicina & Laboratorio 2023; 27 (3)

Real-time PCR for the detection and genotyping of the p.C282Y and p.H63D mutations in the human HFE gene associated with hemochromatosis (qPCR HFE)

Arias-Agudelo LM, Alzate-Cano CM, Franco-Alzate C, Santiago-Pacheco V, Mesa-Arango JA

Language: Spanish
References: 6
Page: 277-281
PDF size: 91.14 Kb.


ABSTRACT

No abstract.


REFERENCES

  1. Girelli D, Busti F, Brissot P, Cabantchik I, MuckenthalerMU, Porto G. Hemochromatosis classification:update and recommendations by theBIOIRON Society. Blood 2022;139:3018-3029.https://doi.org/10.1182/blood.2021011338.

  2. Santos P, Krieger JE, Pereira AC. Moleculardiagnostic and pathogenesis of hereditary hemochromatosis.Int J Mol Sci 2012;13:1497-1511. https://doi.org/10.3390/ijms13021497.

  3. Brissot P, Pietrangelo A, Adams PC, de GraaffB, McLaren CE, Loréal O. Haemochromatosis.Nat Rev Dis Primers 2018;4:18016. https://doi.org/10.1038/nrdp.2018.16.

  4. Porto G, Brissot P, Swinkels DW, Zoller H,Kamarainen O, Patton S, et al. EMQN bestpractice guidelines for the molecular geneticdiagnosis of hereditary hemochromatosis (HH).Eur J Hum Genet 2016;24:479-495. https://doi.org/10.1038/ejhg.2015.128.

  5. Gochee PA, Powell LW, Cullen DJ, Du Sart D,Rossi E, Olynyk JK. A population-based studyof the biochemical and clinical expressionof the H63D hemochromatosis mutation. Gastroenterology2002;122:646-651. https://doi.org/10.1016/s0016-5085(02)80116-0.

  6. Le Gac G, Férec C. The molecular geneticsof haemochromatosis. Eur J Hum Genet2005;13:1172-1185. https://doi.org/10.1038/sj.ejhg.5201490.




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