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Your search keyword '"L. Gutiérrez-Murillo"' showing total 2 results
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2 results on '"L. Gutiérrez-Murillo"'

1. PB1720 EARLY DEATHS IN ACUTE PROMYELOCYTIC LEUKEMIA: ANALYSIS OF PREDICTIVE FACTORS IN OUR INSTITUTION IN THE LAST 20 YEARS

Author

Miguel T. Hernández-García, T. Martín-Santos, A. Martín-Martín, José María Raya, B. González-González, P. Rodríguez-Siverio, K. Mayani, L. Gutiérrez-Murillo, S. Lakhwani, M. Rivero-García, and P. Machado

Subjects
Acute promyelocytic leukemia, Pediatrics, medicine.medical_specialty, business.industry, medicine, Hematology, medicine.disease, business
Published
2019
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2. Hb Nivaria: A New Hemoglobin Variant with a Shortened α -Globin Chain [ α 139(HC1)Lys → Stop; HBA1 : c.418A>T].

Author

Ropero Gradilla P, Raya JM, González FA, Rochas S, Ferrer-Benito S, Nieto JM, Martín-Santos T, Barrios M, Gutiérrez-Murillo L, Villegas A, and Benavente C

Subjects
Male, Humans, Adult, Glycated Hemoglobin, Chromatography, High Pressure Liquid, Electrophoresis, Capillary, Lysine, Hemoglobins
Abstract

We report a novel hemoglobin (Hb) variant found in a Spanish individual from Santa Cruz de Tenerife, the Canary Islands in Spain. The proband was a 39-year-old male. High performance liquid chromatography (HPLC) displayed an unknown peak (19.3%) at a retention time of 1.3 min. eluting before Hb A 0 . Capillary zone electrophoresis (CZE) showed an abnormal peak (20.0%) in zone 12. Direct DNA sequencing of the α-globin genes revealed heterozygosity for a nonsense mutation at codon 139 ( A AA> T AA), causing a lysine to stop codon substitution [α139(HC1)Lys→Stop; HBA1 : c.418A>T]. We decided to name the variant Hb Nivaria (Tenerife) for the place of birth and residence of the proband.

Published
2022
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