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Editorial
. 2018 Jan;103(1):6-8.
doi: 10.3324/haematol.2017.182295.

High-throughput sequencing for rapid diagnosis of inherited platelet disorders: a case for a European consensus

Alan T Nurden  1 , Paquita Nurden  2
Affiliations
Editorial

High-throughput sequencing for rapid diagnosis of inherited platelet disorders: a case for a European consensus

Alan T Nurden et al. Haematologica. 2018 Jan.
No abstract available

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Figures

Figure 1.
Figure 1.
Genotype/phenotype in IPDs: an Iberian Peninsula Study. An illustration showing a platelet (center) surrounded by boxes naming the genes that are arbitrarily grouped into gene families constituting the platform composed by Bastida et al. The genes with mutations thought likely or probable to be pathogenic for IPDs within the Iberian Peninsula are highlighted in blue. In red are those genes recently highlighted in the literature to be disease-causing, and which are candidates to be added to the platform.
See this image and copyright information in PMC

Comment on

  • Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.
    Bastida JM, Lozano ML, Benito R, Janusz K, Palma-Barqueros V, Del Rey M, Hernández-Sánchez JM, Riesco S, Bermejo N, González-García H, Rodriguez-Alén A, Aguilar C, Sevivas T, López-Fernández MF, Marneth AE, van der Reijden BA, Morgan NV, Watson SP, Vicente V, Hernández-Rivas JM, Rivera J, González-Porras JR. Bastida JM, et al. Haematologica. 2018 Jan;103(1):148-162. doi: 10.3324/haematol.2017.171132. Epub 2017 Oct 5. Haematologica. 2018. PMID: 28983057 Free PMC article.

References

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