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Lista de obras de 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

artículo científico publicado en 2017

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

artículo científico publicado en 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.

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2018

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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