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Expanding and Improving the Service for Testing Single Embryonic Cells by Preimplantation Genetic Haplotyping

The problem of having offspring with inherited diseases can be resolved in some cases through preimplantation genetic diagnosis (PGD). Spinal Muscular Atrophy (SMA) is one of these diseases. In my short term visit to Guy’s Hospital in London, I set up a panel of markers which can be used for preimpl...

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Detalles Bibliográficos
Autores principales: López, Sara Ocaña, Renwick, Pamela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Communications and Publications Division (CPD) of the IFCC 2007
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5869224/
https://www.ncbi.nlm.nih.gov/pubmed/29593454
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author López, Sara Ocaña
Renwick, Pamela
author_facet López, Sara Ocaña
Renwick, Pamela
author_sort López, Sara Ocaña
collection PubMed
description The problem of having offspring with inherited diseases can be resolved in some cases through preimplantation genetic diagnosis (PGD). Spinal Muscular Atrophy (SMA) is one of these diseases. In my short term visit to Guy’s Hospital in London, I set up a panel of markers which can be used for preimplantion genetic haplotyping in affected families with this pathology.
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spelling pubmed-58692242018-03-28 Expanding and Improving the Service for Testing Single Embryonic Cells by Preimplantation Genetic Haplotyping López, Sara Ocaña Renwick, Pamela EJIFCC Research Article The problem of having offspring with inherited diseases can be resolved in some cases through preimplantation genetic diagnosis (PGD). Spinal Muscular Atrophy (SMA) is one of these diseases. In my short term visit to Guy’s Hospital in London, I set up a panel of markers which can be used for preimplantion genetic haplotyping in affected families with this pathology. The Communications and Publications Division (CPD) of the IFCC 2007-12-21 /pmc/articles/PMC5869224/ /pubmed/29593454 Text en Copyright © 2007 International Federation of Clinical Chemistry and Laboratory Medicine (IFCC). All rights reserved. http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
López, Sara Ocaña
Renwick, Pamela
Expanding and Improving the Service for Testing Single Embryonic Cells by Preimplantation Genetic Haplotyping
title Expanding and Improving the Service for Testing Single Embryonic Cells by Preimplantation Genetic Haplotyping
title_full Expanding and Improving the Service for Testing Single Embryonic Cells by Preimplantation Genetic Haplotyping
title_fullStr Expanding and Improving the Service for Testing Single Embryonic Cells by Preimplantation Genetic Haplotyping
title_full_unstemmed Expanding and Improving the Service for Testing Single Embryonic Cells by Preimplantation Genetic Haplotyping
title_short Expanding and Improving the Service for Testing Single Embryonic Cells by Preimplantation Genetic Haplotyping
title_sort expanding and improving the service for testing single embryonic cells by preimplantation genetic haplotyping
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5869224/
https://www.ncbi.nlm.nih.gov/pubmed/29593454
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