A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family
about
The structure and regulation of human muscle α-actininThe secret life of a megakaryocyte: emerging roles in bone marrow homeostasis controlGenome-wide Association Study of Platelet Count Identifies Ancestry-Specific Loci in Hispanic/Latino AmericansThe actinin family of actin cross-linking proteins - a genetic perspective.Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia.ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterizationInherited thrombocytopenias: the beat goes on.Progress in understanding the diagnosis and molecular genetics of macrothrombocytopenias.ACTN1 rod domain mutation associated with congenital macrothrombocytopenia.Congenital macrothrombocytopenia-linked mutations in the actin-binding domain of α-actinin-1 enhance F-actin association.Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders.Regulation of actin polymerization by tropomodulin-3 controls megakaryocyte actin organization and platelet biogenesis.Genome-wide analysis of alternative transcripts in human breast cancer.The non-muscle functions of actinins: an update.Cdc42-dependent F-actin dynamics drive structuration of the demarcation membrane system in megakaryocytes.Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.ACTN1 variants associated with thrombocytopenia.Megakaryocyte ontogeny: Clinical and molecular significance.Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia
P2860
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P2860
A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family
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name
A missense mutation in the alp ...... penia in a large French family
@ast
A missense mutation in the alp ...... penia in a large French family
@en
A missense mutation in the alp ...... penia in a large French family
@en-gb
A missense mutation in the alp ...... penia in a large French family
@nl
type
label
A missense mutation in the alp ...... penia in a large French family
@ast
A missense mutation in the alp ...... penia in a large French family
@en
A missense mutation in the alp ...... penia in a large French family
@en-gb
A missense mutation in the alp ...... penia in a large French family
@nl
prefLabel
A missense mutation in the alp ...... penia in a large French family
@ast
A missense mutation in the alp ...... penia in a large French family
@en
A missense mutation in the alp ...... penia in a large French family
@en-gb
A missense mutation in the alp ...... penia in a large French family
@nl
P2093
P2860
P1433
P1476
A missense mutation in the alp ...... penia in a large French family
@en
P2093
Brigitte Pan-Petesch
Claude Férec
Cédric Le Maréchal
Elisabeth Hardy
Eric Gobin
Jean-Francois Abgrall
Jian-Min Chen
Karen Rouault
Mathieu Kerbiriou
Odile Raguénès
P2860
P304
P356
10.1371/JOURNAL.PONE.0074728
P407
P577
2013-01-01T00:00:00Z