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Article

Prothrombin carora: hypoprothrombinaemia caused by substitution of Tyr-44 by Cys.

British journal of haematology - 1 Jun 1999

Sun W Y, Ruiz-Saez A, Burkart M C, Bosch N, Degen S J

Abstract excerpt

Two members of a family from Carora, Venezuela, were found to have prothrombin activity levels at 4% of normal and undetectable antigen levels. All exons of the prothrombin gene from the proband were sequenced and a mutation at nucleotide 1305 was identified that would result in the substitution of Cys for Tyr at residue 44. Residue 44 is present in the aromatic stack region of the protein. Substitution of a Cys...

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Identifiers

PMID: 10354129
DOI: 10.1046/j.1365-2141.1999.01395.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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