Large deletion in the Factor VIII gene (F8) involving segmental duplications in int22h shows no haematological phenotype in female carriers, but may be embryonic lethal in males
Author:
Affiliation:
1. Unitat de Hemostàsia Trombosi; Hospital Universitari La Fe; Av. Campanar, 21; 46009; Valencia; Spain
2. Unitat de Genètica i Diagnòstic Prenatal; Hospital Universitari La Fe; Av. Campanar, 21; 46009; Valencia; Spain
Publisher
Wiley
Subject
Hematology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2141.2012.09092.x/fullpdf
Reference10 articles.
1. Int22h-related inversions causing hemophilia A: a novel insight into their origin and a new more discriminant PCR test for their detection;Bagnall;Journal of Thrombosis and Haemostasis,2006
2. CLIC-2 modulates cardiac ryanodine receptor Ca2+ release channels;Board;The International Journal of Biochemistry and Cell Biology,2004
3. VBP-1 is necessary for morphogenesis in Caenorhabditis elegans;Ichimiya;Oncology Reports,2003
4. Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions;El-Hattab;Journal of Medical Genetics,2011
5. Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly;Giannandrea;American Journal of Human Genetics,2010
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2. Review of molecular mechanisms at distal Xq28 leading to balanced or unbalanced genomic rearrangements and their phenotypic impacts on hemophilia;Haemophilia;2018-08-08
3. Complex recombination with deletion in the F8 and duplication in the TMLHE mediated by int22h copies during early embryogenesis;Thrombosis and Haemostasis;2017
4. Principles of genetic variations and molecular diseases: applications in hemophilia A;Critical Reviews in Oncology/Hematology;2016-08
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