A missense mutation in ANKRD26 segregates with thrombocytopenia-Reference-Cited by-同舟云学术

A missense mutation in ANKRD26 segregates with thrombocytopenia

Published:2013-07-18 Issue:3 Volume:122 Page:461-462
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Al Daama Saad A.¹,Housawi Yousef H.¹,Dridi Walid¹,Sager Mohammed¹,Otieno F. George²,Hou Cuiping²,Vasquez Lyam²,Kim Cecilia²,Tian Lifeng²,Sleiman Patrick³⁴,Hakonarson Hakon³⁴

Affiliation:

1. Departments of Pediatrics, Pediatric Oncology, Pathology, and Laboratory Medicine and Research, King Fahad Specialist Hospital-Dammam, Dammam, Saudi Arabia

2. Center for Applied Genomics, The Children’s Hospital of Philadelphia, Philadelphia, PA

3. Department of Genetics, Center of Applied Genomics, The Children’s Hospital of Philadelphia, Philadelphia, PA

4. Department of Pediatrics, University of Pennsylvania Medical School, Philadelphia, PA

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/122/3/461/1372265/461.pdf

Reference5 articles.

1. Genetics of familial forms of thrombocytopenia.;Balduini;Hum Genet,2012

2. Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.;Noris;Blood,2011

3. Ubiquitin/proteasome-rich particulate cytoplasmic structures (PaCSs) in the platelets and megakaryocytes of ANKRD26-related thrombo-cytopenia.;Necchi;Thromb Haemost,2013

4. Mutations in the 5′ UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.;Pippucci;Am J Hum Genet,2011

5. UCSC Genome Browser. http://genome.ucsc.edu/. Accessed May 15, 2013

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