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A Missense Mutation in the Alpha-Actinin 1 Gene (ACTN1) Is the Cause of Autosomal Dominant Macrothrombocytopenia in a Large French Family
Guéguen P,
Rouault K,
Chen JM,
Raguénès O,
Fichou Y,
et al.
(2013)
A Missense Mutation in the Alpha-Actinin 1 Gene (ACTN1) Is the Cause of Autosomal Dominant Macrothrombocytopenia in a Large French Family.
PLOS ONE 8(9): e74728.
https://doi.org/10.1371/journal.pone.0074728