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."
No Summary Available
Affiliation
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
Journal Details
This article was published in the following journal.
Name: Haemophilia : the official journal of the World Federation of Hemophilia
ISSN: 1365-2516
Pages:
Links
- 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.
Arachnodactyly
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.
PubMed Articles
Mutation spectrum and inhibitor risk in 100 Korean patients with severe haemophilia A.
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...
Mutational spectrum and geno-phenotype correlation in Chinese families with Hereditary Angioedema.
BACKGROUND: Hereditary angioedema is a rare autosomal dominant disease, and its correlation between genotype and phenotype seems not to exist. So far, there are very few studies on Chinese population....
Two novel multiple mutations in chinese patients with adrenoleukodystrophy.
X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder caused by mutations in the ABCD1 gene. Up to now, more than 1 050 mutations have been reported in the ABCD1 gene, of which only...
Novel mutations of endothelin-B receptor gene in Pakistani patients with Waardenburg syndrome.
Mutations in EDNRB gene have been reported to cause Waardenburg-Shah syndrome (WS4) in humans. We investigated 17 patients with WS4 for identification of mutations in EDNRB gene using PCR and direct s...
Molecular characterization of de novo Ph+ Acute Myeloid Leukemia.
ABSTRACT Philadelphia chromosome-positive (Ph+) AML is a controversial diagnosis, as others propose it represents CML in blast phase (CML-BP). NPM1 mutations occur in 25-35% of AML but are absent in C...
Clinical Trials
RATIONALE: The identification of gene mutations in individuals who have or are at risk for von Hippel-Lindau syndrome may allow doctors to better determine the genetic processes involved i...
ABCB4 Gene Mutations in Intrahepatic Cholestasis of Pregnancy and Controls
Mutations of the ATP binding cassette subfamily B member 4 (ABCB4) gene, a gene involved in a subtype of progressive familial intrahepatic cholestasis, have been reported in women sufferin...
Study of Selected X-Linked Disorders: Goltz Syndrome
Focal dermal hypoplasia, or Goltz syndrome, results from genetic changes, or mutations in the PORCN gene located on the X chromosome. This neurodevelopmental disorder is characterized by...
RATIONALE: The identification of gene mutations in young patients with pleuropulmonary blastoma syndrome may allow doctors to better understand the genetic processes involved in the develo...
Our goal for this project is to investigate the causes of the wide variability of the expression of Hereditary Multiple Exostoses (HME). Previous work completed by our group shows that th...
