The correlation between gene mutations and inhibitor development in patients with haemophilia A in southern Iran.
Summary of "The correlation between gene mutations and inhibitor development in patients with haemophilia A in southern Iran."
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Hematology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran Comprehensive Haemophilia Treatment Center, The Iranian Haemophilia Society Angelo Bianchi Bonomi Hemophilia and Thrombosis Center and Fondazione Luigi Villa, IRCCS Maggiore H
This article was published in the following journal.
Name: Haemophilia : the official journal of the World Federation of Hemophilia
- PubMed Source: http://www.ncbi.nlm.nih.gov/pubmed/21371201
- DOI: http://dx.doi.org/10.1111/j.1365-2516.2011.02510.x
Medical and Biotech [MESH] Definitions
Tissue Inhibitor Of Metalloproteinase-3
A member of the family of tissue inhibitor of metalloproteinases. Mutations of the gene for TIMP3 PROTEIN causes Sorsby fundus dystrophy.
Hereditary Angioedema Types I And Ii
Forms of hereditary angioedema that occur due to mutations in the gene for COMPLEMENT C1 INHIBITOR PROTEIN. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein.
Gene Knockout Techniques
Techniques to alter a gene sequence that result in an inactivated gene, or one in which the expression can be inactivated at a chosen time during development to study the loss of function of a gene.
An abnormal bone development that is characterized by extra long and slender hands and fingers, such that the clenched thumb extends beyond the ulnar side of the hand. Arachnodactyly can include feet and toes. Arachnodactyly has been associated with several gene mutations and syndromes.
Cyclin-dependent Kinase Inhibitor P15
An INK4 cyclin-dependent kinase inhibitor containing four ANKYRIN-LIKE REPEATS. INK4B is often inactivated by deletions, mutations, or hypermethylation in HEMATOLOGIC NEOPLASMS.
Haemophilia A (HA) is an X-linked recessive bleeding disorder caused by defects in the F8 gene encoding the coagulation factor VIII. Mutation analysis in HA is important to confirm the diagnosis, geno...
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