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Xu, C. Glycoprotein VI Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/4041 (accessed on 29 September 2026).
Xu C. Glycoprotein VI Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/4041. Accessed September 29, 2026.
Xu, Camila. "Glycoprotein VI Deficiency" Encyclopedia, https://encyclopedia.pub/entry/4041 (accessed September 29, 2026).
Xu, C. (2020, December 23). Glycoprotein VI Deficiency. In Encyclopedia. https://encyclopedia.pub/entry/4041
Xu, Camila. "Glycoprotein VI Deficiency." Encyclopedia. Web. 23 December, 2020.
Glycoprotein VI Deficiency
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/glycoprotein-vi-deficiency

Glycoprotein VI deficiency is a bleeding disorder associated with a decreased ability to form blood clots.

genetic conditions

References

  1. Arthur JF, Dunkley S, Andrews RK. Platelet glycoprotein VI-related clinicaldefects. Br J Haematol. 2007 Nov;139(3):363-72. Review.
  2. Bender M, Hofmann S, Stegner D, Chalaris A, Bösl M, Braun A, Scheller J,Rose-John S, Nieswandt B. Differentially regulated GPVI ectodomain shedding bymultiple platelet-expressed proteinases. Blood. 2010 Oct 28;116(17):3347-55. doi:10.1182/blood-2010-06-289108.
  3. Dumont B, Lasne D, Rothschild C, Bouabdelli M, Ollivier V, Oudin C, Ajzenberg N, Grandchamp B, Jandrot-Perrus M. Absence of collagen-induced plateletactivation caused by compound heterozygous GPVI mutations. Blood. 2009 Aug27;114(9):1900-3. doi: 10.1182/blood-2009-03-213504.
  4. Hermans C, Wittevrongel C, Thys C, Smethurst PA, Van Geet C, Freson K. Acompound heterozygous mutation in glycoprotein VI in a patient with a bleedingdisorder. J Thromb Haemost. 2009 Aug;7(8):1356-63. doi:10.1111/j.1538-7836.2009.03520.x.
  5. Matus V, Valenzuela G, Sáez CG, Hidalgo P, Lagos M, Aranda E, Panes O, PereiraJ, Pillois X, Nurden AT, Mezzano D. An adenine insertion in exon 6 of human GP6generates a truncated protein associated with a bleeding disorder in four Chileanfamilies. J Thromb Haemost. 2013 Sep;11(9):1751-9. doi: 10.1111/jth.12334.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Camila Xu
View Times: 593
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
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