Novel ACTN1 variants in cases of thrombocytopenia

The ACTN1 gene has been implicated in inherited macrothrombocytopenia. To decipher the spectrum of variants and phenotype of ACTN1‐related thrombocytopenia, we sequenced the ACTN1 gene in 272 cases of unexplained chronic or familial thrombocytopenia. We identified 15 rare, monoallelic, nonsynonymous...

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Veröffentlicht in:	Human mutation 2019-12, Vol.40 (12), p.2258-2269
Hauptverfasser:	Vincenot, Anne, Saultier, Paul, Kunishima, Shinji, Poggi, Marjorie, Hurtaud‐Roux, Marie‐Françoise, Roussel, Alain, ACTN1 study coinvestigators, Schlegel, Nicole, Alessi, Marie‐Christine
Format:	Artikel
Sprache:	eng
Schlagworte:	Actin Actinin Actinin - chemistry Actinin - genetics ACTN1 Adolescent Adult Aged Child constitutional Female Genetic Predisposition to Disease Humans Life Sciences Male Middle Aged Mutagenesis, Site-Directed Mutation Pedigree Phenotypes platelet Platelets Protein Domains rod domain Sequence Analysis, DNA - methods Thrombocytopenia Thrombocytopenia - genetics Young Adult
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