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image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Haemophiliaarrow_drop_down
image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao
Haemophilia
Article . 2009 . Peer-reviewed
License: Wiley Online Library User Agreement
Data sources: Crossref
Haemophilia
Article . 2011
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Study of mutations in Jordanian patients with haemophilia A: identification of five novel mutations

Authors: A, Awidi; M, Ramahi; D, Alhattab; R, Mefleh; M, Dweiri; N, Bsoul; A, Magablah; +8 Authors

Study of mutations in Jordanian patients with haemophilia A: identification of five novel mutations

Abstract

Summary.  Haemophilia A (HA) is an X‐linked recessive bleeding disorder caused by mutations in the factor VIII gene (F8), which encodes factor VIII (FVIII) protein, a plasma glycoprotein, that plays an important role in the blood coagulation cascade. In the present study, our aim was to identify F8 gene mutations in HA patients from Jordan. One hundred and seventy‐five HA patients from 42 unrelated families were included in this study. Among these patients, 117 (67%) had severe HA, 13 (7%) had moderate HA and 45 (26%) had mild HA. Severe patients were first tested for intron‐22 inversion using long range polymerase chain reaction (PCR), then negative patients were tested for intron‐1 inversion using PCR. Sequencing for the entire F8 gene was performed for all severe HA patients who were found negative for intron‐22 and ‐1 inversions and it was also performed for moderate and mild HA patients. HA causative mutations were identified in all patients. Intron‐22 and ‐1 inversions were detected in 52% and 2% of families respectively. Beside these two mutations, 19 different mutations were identified, which include 15 missense and four frameshift mutations. Five novel mutations were identified including one frameshift and four missense mutations. No large deletions or nonsense mutations were detected in patients who participated in this study. Only 17 patients with severe HA were found positive for FVIII inhibitors. The data presented will play an important role for genetic counselling and health care of HA patients in Jordan.

Keywords

Adult, Male, Factor VIII, Jordan, Adolescent, Blood Coagulation Factor Inhibitors, DNA Mutational Analysis, Infant, Newborn, Mutation, Missense, Infant, Sequence Analysis, DNA, Middle Aged, Hemophilia A, Polymerase Chain Reaction, Introns, Child, Preschool, Mutation, Humans, Child, Frameshift Mutation

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    Top 10%
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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
15
Top 10%
Average
Average
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