Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years’ experience in Catalonia (Spain)

BACKGROUND: The current scenario of newborn screening is changing as DNA studies are being included in the programs of several countries. Severe combined immunodeficiency (SCID) disorders can be detected using quantitative PCR assays to measure T‐cell receptor excision circles (TRECs), a byproduct o...

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Detalles Bibliográficos
Autores principales: Martin‐Nalda, Andrea, Cueto‐González, Anna M., Argudo‐Ramírez, Ana, Marin‐Soria, Jose L., Martinez‐Gallo, Monica, Colobran, Roger, Plaja, Albert, Castells, Neus, Riviere, Jacques, Tizzano, Eduardo F., Soler‐Palacin, Pere
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6900354/
https://www.ncbi.nlm.nih.gov/pubmed/31663686
http://dx.doi.org/10.1002/mgg3.1016

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6900354/
https://www.ncbi.nlm.nih.gov/pubmed/31663686
http://dx.doi.org/10.1002/mgg3.1016

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