Bleeding disorder, platelet-type, 13, susceptibility to

Disease ID:150
Name:Bleeding disorder, platelet-type, 13, susceptibility to
Associated with:1 target
Synonyms
Bleeding diathesis due to thromboxane synthesis deficiency
Database Links
OMIM: 614009
Orphanet: ORPHA220443

Targets

TP receptor
Mutations:  TP receptor is associated with 2 mutation. Click here for details

Ligands

No ligand related data available for Bleeding disorder, platelet-type, 13, susceptibility to

References

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1. Hirata T, Kakizuka A, Ushikubi F, Fuse I, Okuma M, Narumiya S. (1994) Arg60 to Leu mutation of the human thromboxane A2 receptor in a dominantly inherited bleeding disorder. J Clin Invest, 94: 1662-1667. [PMID:7929844]

2. Mumford AD, Dawood BB, Daly ME, Murden SL, Williams MD, Protty MB, Spalton JC, Wheatley M, Mundell SJ, Watson SP. (2010) A novel thromboxane A2 receptor D304N variant that abrogates ligand binding in a patient with a bleeding diathesis. Blood, 115 (2): 363-9. [PMID:19828703]