TY  - JOUR 
AU  - Bastida Bermejo, José María
AU  - Lozano, María L.
AU  - Benito Sánchez, Rocío
AU  - Janusz, Kamila
AU  - Palma-Barqueros, Verónica
AU  - Del Rey, Mónica
AU  - Hernández Sánchez, Jesús María
AU  - Riesco, Susana
AU  - Bermejo, Nuria
AU  - González-García, Hermenegildo
AU  - Rodriguez-Alén, Agustín
AU  - Aguilar, Carlos
AU  - Sevivas, Teresa
AU  - López-Fernández, María F.
AU  - Marneth, Anna E.
AU  - van der Reijden, Bert A.
AU  - Morgan, Neil V.
AU  - Watson, Steve P.
AU  - Vicente, Vicente
AU  - Hernández Rivas, Jesús María
AU  - Rivera, José
AU  - González Porras, José Ramón
PY  - 2018
SN  - 0390-6078
UR  - http://hdl.handle.net/10366/140735
AB  - [EN] 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...
LA  - eng
KW  - Instituto de Investigación Biomédica de Salamanca
KW  - Platelet disorders
KW  - Genes
KW  - Rare disorders
KW  - High-throughput sequencing platform
KW  - Rare Diseases
TI  - Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders
DO  - 10.3324/haematol.2017.171132
T2  - Haematologica
VL  - 103
M2  - 148
ER  -