Identification of the first large intronic deletion responsible of type I antithrombin deficiency not detected by routine molecular diagnostic methods-Reference-Cited by-同舟云学术

Identification of the first large intronic deletion responsible of type I antithrombin deficiency not detected by routine molecular diagnostic methods

Published:2019-04-02 Issue:4 Volume:186 Page:
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:Br J Haematol

Author:

De la Morena‐Barrio Belén¹^ORCID,Borràs Nina²³,Rodríguez‐Alén Agustín⁴,Morena‐Barrio María E.¹^ORCID,García‐Hernández Juan L.⁵,Padilla José¹,Bravo‐Pérez Carlos¹,Miñano Antonia¹,Rollón Noelia⁴,Corral Javier¹,Vidal Francisco²³⁶⁷,Vicente Vicente¹

Affiliation:

1. Servicio de Hematología y Oncología Médica Hospital Universitario Morales Meseguer Centro Regional de Hemodonación Universidad de Murcia IMIB‐Arrixaca, Murcia, CIBERER MurciaSpain

2. Banc de Sang i TeixitsBarcelonaSpain

3. Vall d'Hebron Research Institute Universitat Autònoma de Barcelona (VHIR‐UAB) BarcelonaSpain

4. Servicio de Hematología Hospital Virgen de la Salud ToledoSpain

5. Instituto de Investigación Biomédica de Salamanca (IBSAL) Hospital Universitario de SalamancaSalamancaSpain

6. Instituto de Biología Molecular y Celular del Cáncer Consejo Superior de Investigaciones Científicas (CSIC) Universidad de Salamanca SalamancaSpain

7. CIBER de Enfermedades Cardiovasculares Madrid Spain

Publisher

Wiley

Subject

Hematology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjh.15913

Reference10 articles.

1. The genetics of antithrombin

2. Deletion ofWNK1First Intron Results in Misregulation of Both Isoforms in Renal and Extrarenal Tissues

3. Regulatory sequences clustered at the 5? end of the first intron of the human thymidylate synthase gene function in cooperation with the promoter region

4. Hypoglycosylation is a common finding in antithrombin deficiency in the absence of aSERPINC1gene defect

5. Identification of a New Mechanism of Antithrombin Deficiency Hardly Detected by Current Methods: Duplication of SERPINC1 Exon 6

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