X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations-Reference-Cited by-同舟云学术

X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations

Published:2013-11-20 Issue:3 Volume:89 Page:315-319
ISSN:0361-8609
Container-title:American Journal of Hematology
language:en
Short-container-title:Am. J. Hematol.

Author:

Campagna Dean R.¹,de Bie Charlotte I.²,Schmitz-Abe Klaus³⁴,Sweeney Marion⁵,Sendamarai Anoop K.¹,Schmidt Paul J.¹,Heeney Matthew M.⁶,Yntema Helger G.⁷,Kannengiesser Caroline⁸,Grandchamp Bernard⁸,Niemeyer Charlotte M.⁹,Knoers Nine V.A.M.²,Swart Sonia¹⁰,Marron Gordon¹¹,van Wijk Richard¹²,Raymakers Reinier A.¹³,May Alison⁵,Markianos Kyriacos³⁴,Bottomley Sylvia S.¹⁴,Swinkels Dorine W.¹⁵,Fleming Mark D.¹

Affiliation:

1. Department of Pathology; Boston Children's Hospital; Boston Massachusetts

2. Department of Medical Genetics; University Medical Centre; Utrecht Utrecht The Netherlands

3. Division of Genetics and Genomics; Boston Children's Hospital; Boston Massachusetts

4. Department of Medicine; Boston Children's Hospital; Boston Massachusetts

5. Department of Haematology; Cardiff University School of Medicine; Heath Park Cardiff Wales

6. Division of Hematology; Boston Children's Hospital; Boston Massachusetts

7. Department of Genetics; Radboud University Medical Centre; Nijmegen The Netherlands

8. Laboratoire de Génétique Moléculaire, Unité fonctionnelle de génétique, Hôpital Xavier Bichat-Claude Bernard, Université Paris Diderot; insermU773 Paris France

9. Pediatric Hematology and Oncology Department, Children's Hospital; University of Freiburg; Freiburg Germany

10. NGH NHS Trust; Northampton General Hospital; Clifton Ville Northampton England

11. Department of Haematology; Ninewells Hospital; Dundee Scotland

12. Department of Clinical Chemistry and Haematology; University Medical Centre Utrecht; Utrecht The Netherlands

13. Department of Haematology; University Medical Centre; Utrecht Utrecht the Netherlands

14. Department of Medicine; Hematology-Oncology Section; University of Oklahoma College of Medicine; Oklahoma Oklahoma

15. Department of Laboratory Medicine; Radboud University Medical Centre; Nijmegen The Netherlands

Publisher

Wiley

Subject

Hematology

Reference26 articles.

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2. Systematic molecular genetic analysis of congenital sideroblastic anemia: Evidence for genetic heterogeneity and identification of novel mutations;Bergmann;Pediatr Blood Cancer,2010

3. Crystal structure of 5-aminolevulinate synthase, the first enzyme of heme biosynthesis, and its link to XLSA in humans;Astner;EMBO J,2005

4. X chromosome inactivation ratios in female carriers of X-linked sideroblastic anemia;Aivado;Blood,2001

5. The UCSC Genome Browser database: Extensions and updates 2013;Meyer;Nucleic Acids Res,2013

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