Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders

Autor: José M. Bastida, María L. Lozano, Rocío Benito, Kamila Janusz, Verónica Palma-Barqueros, Mónica Del Rey, Jesús M. Hernández-Sánchez, Susana Riesco, Nuria Bermejo, Hermenegildo González-García, Agustín Rodriguez-Alén, Carlos Aguilar, Teresa Sevivas, María F. López-Fernández, Anna E. Marneth, Bert A. van der Reijden, Neil V. Morgan, Steve P. Watson, Vicente Vicente, Jesús M. Hernández-Rivas, José Rivera, José R. González-Porras

Publikováno v: Haematologica, Vol 103, Iss 1 (2018)

Inherited platelet disorders are a heterogeneous group of rare diseases, caused by inherited defects in platelet production and/or function. Their genetic diagnosis would benefit clinical care, prognosis and preventative treatments. Until recently, t

Externí odkaz: https://doaj.org/article/e0ad23648fa549b5a1e7f34c2c654e55

Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders

Autor: Kamila Janusz, Susana Riesco, José Ramón González-Porras, María Fernanda López-Fernández, Maria Luisa Lozano, Jesus M Hernández-Sánchez, Steve P. Watson, Anna E. Marneth, Bert A. van der Reijden, Agustín Rodriguez-Alén, José María Bastida, José Rivera, Mónica del Rey, Carlos Aguilar, Neil V. Morgan, Jesús M. Hernández-Rivas, Nuria Bermejo, Rocío Benito, Verónica Palma-Barqueros, Hermenegildo González-García, Teresa Sevivas, Vicente Vicente

Publikováno v: Haematologica, 103, 148-162
Digital.CSIC. Repositorio Institucional del CSIC
instname
Haematologica, 103, 1, pp. 148-162
GREDOS. Repositorio Institucional de la Universidad de Salamanca
Haematologica

Inherited platelet disorders are a heterogeneous group of rare diseases, caused by inherited defects in platelet production and/or function. Their genetic diagnosis would benefit clinical care, prognosis and preventative treatments. Until recently, t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28f7857562707ed69b2f8428d4f251b5
https://doi.org/10.3324/haematol.2017.171132

Inherited Platelet Disorders: An Updated Overview

Autor: Maria Luisa Lozano, Agustín Rodriguez-Alén, Verónica Palma-Barqueros, José Rivera, Nuria Revilla, José Ramón González-Porras, Vicente Vicente, Ana Zamora Cánovas, Ana Marín-Quílez, José María Bastida, Ana M. Sanchez

Publikováno v: International Journal of Molecular Sciences, Vol 22, Iss 4521, p 4521 (2021)
International Journal of Molecular Sciences

Platelets play a major role in hemostasis as ppwell as in many other physiological and pathological processes. Accordingly, production of about 1011 platelet per day as well as appropriate survival and functions are life essential events. Inherited p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e92d829231a3408bea38ef7a26990d98
https://doi.org/10.3390/ijms22094521