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Artigo em Inglês | MEDLINE | ID: mdl-30539705

RESUMO

BACKGROUND: Investigation of rare bleeding disorders in Latin-America. OBJECTIVES: The report of a new case of FX deficiency due to a compound heterozygosis. METHODS: Accepted clotting procedures were used. Sequencing of DNA was carried out by means of Applied Biosystems Instruments. RESULTS: A compound heterozygote due to the association of a new mutation (Gla72Asp) with an already known mutation (Gly154Arg) of the FX gene is reported. The proposita is a 38 year old female who had a moderate bleeding tendency (menorrhagia, epistaxis, easy bruising). The proposita has never received substitution therapy but in the occasion of a uterine biopsy. The mother was asymptomatic but was a heterozygote for the new mutation. The father was asymptomatic but had deserted the family and could not be investigated. After this abandonment the mother of the proposita re-married with an asymptomatic man and she gave birth to a son who was asymptomatic but was also heterozygous for the new mutation (Gla72Asp). As a consequence it has to be assumed that the first husband of the mother of the proposita was heterozygous for the known mutation (Gly154Arg). CONCLUSIONS: This is the third case of a new mutation in the FX gene reported, during the past few years, in Argentina.


Assuntos
Éxons/genética , Deficiência do Fator X/genética , Adulto , Feminino , Heterozigoto , Humanos , Mutação
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