FLI1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thr...
FLI1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopenia
About this item
Full title
Author / Creator
Raslova, H , Komura, Emiko , Le Couedic, JP , Larbret, F , Debili, N , Feunteun, J , Danos, O , Albagli, O , Vainchenker, W and Favier, R
Publisher
American Society for Clinical Investigation
Journal title
Language
English
Formats
Publication information
Publisher
American Society for Clinical Investigation
More information
Scope and Contents
Contents
Paris-Trousseau syndrome (PTS; also known as Jacobsen syndrome) is characterized by several congenital anomalies including a dysmegakaryopoiesis with two morphologically distinct populations of megakaryocytes (MKs). PTS patients harbor deletions on the long arm of chromosome 11, including the FLI1 gene, which encodes a transcription factor essentia...
Alternative Titles
Full title
FLI1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopenia
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_437972
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_437972
Other Identifiers
ISSN
0021-9738
DOI
10.1172/JCI200421197
