Impact of genetic variants on haematopoiesis in patients with thrombocytopenia absent radii (TAR) syndrome-Reference-Cited by-同舟云学术

Impact of genetic variants on haematopoiesis in patients with thrombocytopenia absent radii (TAR) syndrome

Published:2017-08-31 Issue:4 Volume:179 Page:606-617
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:Br J Haematol

Author:

Manukjan Georgi¹,Bösing Hendrik¹²,Schmugge Markus³,Strauß Gabriele⁴,Schulze Harald¹^ORCID

Affiliation:

1. Institute of Experimental Biomedicine, Chair I; University Hospital Würzburg; Würzburg Germany

2. Laboratory of Paediatric Molecular Biology; Charité - University Hospital Berlin; Berlin Germany

3. Kinderspital Zürich; Zürich Switzerland

4. Department of Paediatric Haematology and Oncology; Helios-Klinikum Buch; Berlin Germany

Funder

Novartis

Publisher

Wiley

Subject

Hematology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/bjh.14913/fullpdf

Reference56 articles.

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3. Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome;Albers;Nature Genetics,2012

4. The pathogenesis of radial ray deficiency in thrombocytopenia-absent radius (TAR) syndrome;Al-Qattan;Journal of the College of Physicians and Surgeons Pakistan,2016

5. Diagnosis, genetics, and management of inherited bone marrow failure syndromes;Alter;Hematology: American Society of Hematology Education Program,2007

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