Fol. Biol. 2020, 66, 1-6

https://doi.org/10.14712/fb2020066010001

Hereditary Haemorrhagic Telangiectasia (HHT) Marked by ACVRL1C1120T Variant Displays Hypopigmented Naevi and Frequent Bleeding Episodes if CYP2C9 Co-Mutated: Clinical Notes & Rationale of Patient Registry

L. Minarik1,2, K. Vargova3, N. Dusilkova1,3, V. Kulvait1, A. Jonasova2, O. Kodet4, Tomas Stopka1,2

1Biocev, First Faculty of Medicine, Charles University, Vestec, Czech Republic
2First Department of Medicine, Department of Haematology, Charles University and General University Hospital in Prague, Czech Republic
3Institute of Pathological Physiology, First Faculty of Medicine, Charles University, Prague, Czech Republic
4Department of Dermatology and Venereology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic

Received November 2019
Accepted December 2019

References

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6. Ricard, N., Bidart, M., Mallet, C., Lesca, G., Giraud, S., Prudent, R., Feige, J. J., Bailly, S. (2010) Functional analysis of the BMP9 response of ALK1 mutants from HHT2 patients: a diagnostic tool for novel ACVRL1 mutations. Blood 116, 1604-1612. <https://doi.org/10.1182/blood-2010-03-276881>
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