SLFN14-related thrombocytopenia: identification within a large series of patients with inherited thrombocytopenia.

Authors :: Marconi C
Di Buduo CA
Barozzi S
Palombo F
Pardini S
Zaninetti C
Pippucci T
Noris P
Balduini A
Seri M
Pecci A
Source :: Thrombosis and haemostasis [Thromb Haemost] 2016 May 02; Vol. 115 (5), pp. 1076-9. Date of Electronic Publication: 2016 Jan 14.
Publication Year :: 2016

Subjects :: Adult
Aged
Amino Acid Substitution
Base Sequence
Blood Platelets pathology
DNA Mutational Analysis
Female
Humans
Male
Mean Platelet Volume
Mutation, Missense
Pedigree
Thrombocytopenia blood
Exome Sequencing
Blood Proteins genetics
Thrombocytopenia genetics

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