Hemofilia: diagnóstico molecular y alternativas de tratamiento
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TLDR
In this paper, otras terapias alternas, aunque estan en fase de investigación, permitirian obtener una produccion de proteina a largo termino and que se han desarrollado gracias al entendimiento de la naturaleza molecular de los factores de la coagulacion.Abstract:
La hemofilia es una enfermedad recesiva ligada al cromosoma X que generalmente padecen los hombres. El diagnostico genetico preimplantacion (DGP), el diagnostico prenatal y el diagnostico molecular de las mutaciones que causan hemofilia, se realizan en investigaciones aisladas con el fin de hacer prevencion primaria, asesorar a las portadoras y a sus familias, lo que ha permitido traer al mundo ninos libres de esta enfermedad y tambien mejorar la calidad de vida de los afectados. Los esperanzadores procedimientos en terapia genica (TG) han mostrado gran efectividad, se pretende con ella la produccion normal de la proteina que esta ausente o alterada en los afectados, pero en el momento los ensayos que se llevan a cabo en seres humanos estan detenidos. Aqui se muestran otras terapias alternas que aunque estan en fase de investigacion, permitirian obtener una produccion de proteina a largo termino y que se han desarrollado gracias al entendimiento de la naturaleza molecular de los factores de la coagulacion.read more
Citations
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Genética molecular de la hemofilia a en una familia colombiana con diagnóstico de enfermedad de von willebrand y de hemofilia a
TL;DR: A Colombian family that apparently suffered the two diseases according to clinical diagnosis and the lack of a genetic study to verify and contrast the diagnosis made by health institutions can lead to a wrong classification of von Willebrand disease as a type of mild Hemophilia.
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Germline sequence variants contributing to cancer susceptibility in South African breast cancer patients of African ancestry
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Hemofilia B o enfermedad de Christmas
María Amparo Acosta Aragón,Angélica Rocío Álvarez Mina,Julian Camilo Velásquez Paz,Jennifer C Vizcaíno Carruyo +3 more
TL;DR: Hemophilia B or Christmas disease was first differentiated from hemophilia A in 1947 and is linked to the X chromosome; women are carriers, but it manifests clinically in men, although cases of symptomatic women carriers have been described.
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