TY  - JOUR 
AU  - Bastida Bermejo, José María
AU  - Benito Sánchez, Rocío
AU  - Janusz, Kamila
AU  - Díez-Campelo, María
AU  - Hernández Sánchez, Jesús María
AU  - Marcellini, S.
AU  - Girós, M.
AU  - Rivera, J.
AU  - Lozano, María L.
AU  - Hortal, A.
AU  - Hernández Rivas, Jesús María
AU  - González Porras, José Ramón
PY  - 2017
SN  - 1538-7933
UR  - http://hdl.handle.net/10366/146419
AB  - [EN] Background: Sitosterolemia (STSL) is a recessive inherited disorder caused by pathogenic variants in the ABCG5 and ABCG8 genes. Increased levels of plasma plant sterols (PSs) usually result in xanthomas and premature coronary atherosclerosis,...
LA  - eng
PB  - Elsevier
KW  - Blood platelet disorders
KW  - Genetic testing
KW  - High-throughput nucleotide sequencing
KW  - Sitosterols
KW  - Thrombocytopenia
KW  - Thrombocytopenia
KW  - Sitosterols
KW  - Blood Platelet Disorders
TI  - Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia
DO  - 10.1111/jth.13777
T2  - Journal of Thrombosis and Haemostasis
VL  - 15
M2  - 1859
ER  -