Varaico: Literature-Extracted Genetic Variants

Gene:MPL
Variant:p.W491*
Back to variants list

MPL

NM_005373.3:p.W491*

Associated Papers

Advances in the understanding of congenital amegakaryocytic thrombocytopenia.

Ballmaier M et al.

British Journal of Haematology, 2009

19388932 (PubMed )
Supplement: supplement_1.pdf

Compound heterozygous c-Mpl mutations in a child with congenital amegakaryocytic thrombocytopenia: functional characterization and a review of the literature.

Fox NE et al.

Experimental Hematology, 2009

Functional analysis of single amino-acid mutations in the thrombopoietin-receptor Mpl underlying congenital amegakaryocytic thrombocytopenia.

Tijssen MR et al.

British Journal of Haematology, 2008

Three parameters, plasma thrombopoietin levels, plasma glycocalicin levels and megakaryocyte culture, distinguish between different causes of congenital thrombocytopenia.

van den Oudenrijn S et al.

British Journal of Haematology, 2002

[From gene to disease; from a thrombopoietin receptor gene defect to congenital amegakaryocytic thrombocytopenia].

van den Oudenrijn S et al.

Nederlands Tijdschrift Voor Geneeskunde, 2002

Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia.

van den Oudenrijn S et al.

British Journal of Haematology, 2000

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."