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Article

Arg60 to Leu mutation of the human thromboxane A2 receptor in a dominantly inherited bleeding disorder.

The Journal of clinical investigation - 1 Oct 1994

Hirata T, Kakizuka A, Ushikubi F, Fuse I, Okuma M, Narumiya S

Abstract excerpt

Recent advances in molecular genetics have revealed the mechanisms underlying a variety of inherited human disorders. Among them, mutations in G protein-coupled receptors have clearly demonstrated two types of abnormalities, namely loss of function and constitutive activation of the receptors. Thromboxane A2 (TXA2) receptor is a member of the family of G protein-coupled receptors and performs an essential role in...

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Identifiers

PMID: 7929844
DOI: 10.1172/JCI117510
PMCID: PMC295328

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Arg60 to Leu mutation of the human thromboxane A2 receptor in a dominantly inherited bleeding disorder.PMID 7929844Read ↗

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