A novel splice donor mutation in the thrombopoietin gene leads to exon 2 skipping in a Filipino family with hereditary thrombocythemia-Reference-Cited by-同舟云学术

A novel splice donor mutation in the thrombopoietin gene leads to exon 2 skipping in a Filipino family with hereditary thrombocythemia

Published:2011-12-22 Issue:26 Volume:118 Page:6988-6990
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Zhang Bing¹,Ng Dana¹,Jones Carol¹,Oh Stephen T.²,Nolan Garry P.³,Salehi Shiva¹,Wong Wendy⁴,Zehnder James L.¹,Gotlib Jason⁵

Affiliation:

1. Department of Pathology, Stanford University School of Medicine, Stanford, CA

2. Department of Medicine, Division of Hematology, Washington University School of Medicine, St Louis, MO

3. Department of Microbiology and Immunology, Stanford University School of Medicine, Stanford, CA

4. Department of Pediatrics, Division of Pediatric Hematology-Oncology, Stanford University School of Medicine, Stanford, CA

5. Department of Medicine, Division of Hematology, Stanford Cancer Institute and Stanford University School of Medicine, Stanford, CA

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/118/26/6988/1343619/zh805211006988.pdf

Reference6 articles.

1. Advances in understanding the pathogenesis of familial thrombocythaemia.;Teofili;Br J Haematol,2011

2. Thrombopoietin and its splicing variants: Structure and functions in thrombopoiesis and beyond.;Marcucci;Biochim Biophys Acta,2008

3. Thrombopoietin: a pan-hematopoietic cytokine.;Geddis;Cytokine Growth Factor Rev,2002

4. Novel mutations in the inhibitory adaptor protein LNK drive JAK-STAT signaling in patients with myeloproliferative neoplasms.;Oh;Blood,2010

5. Congenital secondary hypothyroidism caused by exon skipping due to homozygous donor splice site mutation in the TSHß-subunit gene.;Pohlenz;J Clin Endocrinol Metab,2002

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