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Revista Colombiana de Hematología y Oncología
Article . 2018 . Peer-reviewed
License: CC BY NC SA
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Revista Colombiana de Hematología y Oncología
Article
License: CC BY NC SA
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Programa para diagnóstico molecular de hemofilia A y B en Colombia.

Authors: Luz Karime Yunis Hazbun; Yolima Parrado Jara; Adriana Linares Ballesteros; Juan José Yunis Londoño;

Programa para diagnóstico molecular de hemofilia A y B en Colombia.

Abstract

Introducción: desarrollar un programa colaborativo multicéntrico para el diagnóstico molecular de hemofiliaA y B (HA, HB, respectivamente), y el asesoramiento genético a las familias afectadas. El programacolaborativo se desarrolló entre el Grupo de Patología Molecular de la Universidad Nacional de Colombia,el Grupo de Oncohematología Pediátrica de la Fundación HOMI y el Centro de Investigaciones Clínicasde la Clínica Infantil Colsubsidio.Materiales y métodos: se incluyeron los pacientes con diagnóstico de HA para el año 2015 en los centrosde la Fundación HOMI y la Clínica Infantil Colsubsidio, donde se analizaron 33 pacientes. Para HB,se incluyeron 12 pacientes para el año 2017.Resultados: para la HA, se identificó la inversión 22 en 14/33 (42%), en 3/33 (9%) la inversión 1, en 3/33pacientes (9%) gran deleción y en 11/33 (33%) variaciones puntuales o pequeñas deleciones. Para la HB,se han identificado nueve mutaciones únicas: cuatro missense, dos nonsense, dos deleciones grandes>50 pb y una mutación en la región UTR 3’, que han sido reportadas previamente. Tres pacientes presentanuna mutación que afecta el splicing.Conclusiones: esta alianza permitió identificar las mutaciones responsables de la mayoría de los pacientescon HA y HB, así como brindar un adecuado asesoramiento genético a las familias afectadas, lo cualaporta al abordaje integral. Estos estudios son de gran importancia, ya que contribuyen al entendimientodel comportamiento clínico de estas entidades.

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
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