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Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy

Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4540357

Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy

Publication information

Publisher

New York: Nature Publishing Group US

More information

Scope and Contents

Contents

Akiko Shimamura and colleagues report the identification of dominant-negative germline variants in
ETV6
that cause thrombocytopenia and hematologic malignancies in the affected members of three families. All three mutations alter conserved amino acids in the transcriptional repressor encoded by
ETV6
and affect its DNA binding.
We rep...

Alternative Titles

Full title

Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4540357

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4540357

Other Identifiers

ISSN

1061-4036

E-ISSN

1546-1718

DOI

10.1038/ng.3177

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