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List of works by Jorge M. Nieto

C>A substitution in NT 46 of the 3' UTR region (the α complex protected region) of the alpha-1 globin gene: a non-deletional mutation or polymorphism?

scientific article published on 21 August 2019

Characterization of deletional and non-deletional alpha globin variants in a large cohort from Spain between 2009 and 2014

scientific article published on 25 April 2019

Development and validation of a multivariable prediction rule for detecting a severe acquired ADAMTS13 activity deficiency in patients with thrombotic microangiopathies

scientific article

Different forms of Hb Le Lamentin. An unexpected finding in Hba1c quantification.

scientific article published on 2 October 2015

HB Puerta del Sol [HBA1:c.148A>C], HB Valdecilla [HBA2:c.3G>T], HB Gran Vía [HBA2:c.98T>G], HB Macarena [HBA2:c.358C>T] and HB El Retiro [HBA2:c.364_366dupGTG]: description of five new hemoglobinopathies.

scientific article

Haemoglobinopathies that occur with decreased HbA2 levels: a gene mutation set involving the δ gene at a Spanish centre

scientific article published on 7 July 2016

Hb Cervantes, Hb Marañón, Hb La Mancha and Hb Goya: Description of 4 new haemoglobinopathies

scientific article published on 02 May 2015

Hb Cibeles [α2 CD25(B6) (Gly → Asp)]: a novel alpha chain variant causing alpha-thalassemia.

scientific article

Hb Palencia: a novel δβδ-type two-way fusion variant with β-globin-like expression levels

scientific article published on 12 October 2018

Hemoglobin Le Lamentin in the province of Albacete, Spain: Discovery of 32 cases

scientific article published on 4 November 2016

Heterozygosity for deletion of hypersensitive site 3 in the human locus control region has an unexpected minor effect on red cell phenotype.

scientific article published on 4 September 2014

Identification of a novel mutation in the β-globin gene 3' untranslated region (HBB: c.*+118A > G) in Spain.

scientific article published on 9 January 2015

Novel nonsense mutation in the α1-globin gene [HBA1:C.49A>T] is responsible for non-deletion α-thalassemia

scientific article published on 26 October 2018

Phenotype of mutations in the promoter region of the β-globin gene

scientific article published on 6 April 2017

[Delta⁰-thalassemia by insertion of 27 base pairs in δ-globin gene with decreased hemoglobin A₂ levels].

scientific article published on 8 January 2015

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