A novel 506kb deletion causing εγδβ thalassemia.
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Steve Best | Barnaby Clark | Swee Lay Thein | S. Thein | A. Britland | S. Best | B. Clark | Helen Rooks | Helen Rooks | Peter Rushton | Matthew Oakley | Onn Shaun Thein | Ann C Cuthbert | Alison Britland | Afruj Ruf | O. Thein | Matthew Oakley | P. Rushton | A. Cuthbert | A. Ruf | H. Rooks
[1] J. D. den Dunnen,et al. Fine‐tiling array CGH to improve diagnostics for α‐ and β‐thalassemia rearrangements , 2012, Human mutation.
[2] P. Joly,et al. A Novel Deletion/Insertion Caused by a Replication Error in the β-Globin Gene Locus Control Region , 2011, Hemoglobin.
[3] M. Metzker. Sequencing technologies — the next generation , 2010, Nature Reviews Genetics.
[4] A. Schuh,et al. Multiplex Ligation-Dependent Probe Amplification Identification of 17 Different β-Globin Gene Deletions (Including Four Novel Mutations) in the Uk Population , 2009, Hemoglobin.
[5] R. Ware,et al. Sickle cell disease caused by heterozygosity for Hb S and novel LCR deletion: Report of two patients , 2009, American journal of hematology.
[6] S. Zeinali,et al. Detection of unknown deletions in β‐globin gene cluster using relative quantitative PCR methods , 2009, European journal of haematology.
[7] S. Thein,et al. Disorders of Hemoglobin: The Molecular Basis of β Thalassemia, δβ Thalassemia, and Hereditary Persistence of Fetal Hemoglobin , 2009 .
[8] N. Roberts,et al. Severe intrauterine anemia: a new form of ɛγγδβ thalassemia presenting in utero in a Norwegian family , 2009, Haematologica.
[9] N. Le Metayer,et al. A novel (ɛγδβ)°-thalassemia deletion associated with an α globin gene triplication leading to a severe transfusion dependant fetal thalassemic syndrome , 2009, Haematologica.
[10] O. Visser,et al. Is Beam Just Not Good Enough? A Single Center Experience of Different Transplantation Strategies in Transformed Non-Hodgkin'S Lymphoma , 2009 .
[11] S. Cheung,et al. The array CGH and its clinical applications. , 2008, Drug discovery today.
[12] K. Horibe,et al. A novel ϵγδβ thalassemia of 1.4 Mb deletion found in a Japanese patient , 2008 .
[13] J. D. den Dunnen,et al. Nine unknown rearrangements in 16p13.3 and 11p15.4 causing α- and β-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification , 2005, Journal of Medical Genetics.
[14] Cameron S. Osborne,et al. Heterogeneity of the ɛγδβ‐thalassaemias: characterization of three novel English deletions , 2005, British journal of haematology.
[15] L. Feuk,et al. Detection of large-scale variation in the human genome , 2004, Nature Genetics.
[16] L. Game,et al. A novel deletion causing (εγδβ)° thalassaemia in a Chilean family , 2003 .
[17] P. Fraser,et al. Novel 112 kb (epsilonGgammaAgamma) deltabeta-thalassaemia deletion in a Dutch family. , 2003, British journal of haematology.
[18] Thomas D. Schmittgen,et al. Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. , 2001, Methods.
[19] L. Bernini,et al. A de novo Deletion Causing εγδβ-Thalassemia in a Dutch Patient , 1996 .
[20] R. Fodde,et al. Interaction of two different disorders in the beta-globin gene cluster associated with an increased hemoglobin F production: a novel deletion type of (G) gamma + ((A) gamma delta beta)(0)-thalassemia and a delta(0)-hereditary persistence of fetal hemoglobin determinant. , 1991, Blood.
[21] E. Rappaport,et al. A > 200 kb deletion removing the entire β-like globin gene cluster in a family of Irish Descent , 1991 .
[22] P. Harris,et al. Molecular and hematologic characterization of Scottish-Irish type (epsilon gamma delta beta)zero thalassemia. , 1990, Blood.
[23] B. Alter,et al. Gamma delta beta-thalassemia due to a de novo mutation deleting the 5' beta-globin gene activation-region hypersensitive sites. , 1989, Proceedings of the National Academy of Sciences of the United States of America.
[24] L. Wadsworth,et al. Two new large deletions resulting in εγδβ-thalassemia , 1988 .
[25] D. Kioussis,et al. γδβ-Thalassaemias 1 and 2 are the result of a 100 kbp deletion in the human β-globin cluster , 1986 .
[26] D. Mager,et al. A gene deletion ending within a complex array of repeated sequences 3' to the human beta-globin gene cluster. , 1986, Proceedings of the National Academy of Sciences of the United States of America.
[27] Y. Kan,et al. A distant gene deletion affects beta-globin gene function in an atypical gamma delta beta-thalassemia. , 1985, The Journal of clinical investigation.
[28] J. Sambrook,et al. Molecular Cloning: A Laboratory Manual , 2001 .
[29] S. Orkin,et al. Heterogeneity of DNA deletion in gamma delta beta-thalassemia. , 1981, The Journal of clinical investigation.