Hb Cambridge-MA [β144(HC1)-β146(HC3)Lys-Tyr-His→0 (HBB c.433 AT)]: a new high oxygen affinity variant

Autor:	James D. Hoyer, Jennifer L. Oliveira, Thomas Caughey, Kenneth C. Swanson, Patricia Wendt
Rok vydání:	2010
Předmět:	Hemoglobins Abnormal Clinical Biochemistry DNA Mutational Analysis Polycythemia beta-Globins Beta globulins High-performance liquid chromatography Mass Spectrometry Capillary electrophoresis medicine Humans Point Mutation Globin Genetics (clinical) Chromatography High Pressure Liquid Chromatography Base Sequence Isoelectric focusing Chemistry Point mutation Biochemistry (medical) Electrophoresis Capillary Hematology Middle Aged medicine.disease Molecular biology Oxygen Hemoglobinopathy Female Hemoglobin Isoelectric Focusing
Zdroj:	Hemoglobin. 34(6)
ISSN:	1532-432X
Popis:	A new β hemoglobin (Hb) variant, Hb Cambridge-MA [β144(HC1)β146(HC3)Lys-Tyr-His→0 (AAG>TAG) (HGVS: HBB c.433 A>T] is described. The variant was characterized by high performance liquid chromatography (HPLC), alkaline, acid, globin chain and capillary electrophoresis, isoelectric focusing (IEF), heat and isopropanol stability, p50 analyses, intact globin mass spectrometry (MS) and DNA sequencing. The new variant shows high oxygen (O₂) affinity and is associated with mild polycythemia.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73f23052f44cef54ca027861a96016aa https://pubmed.ncbi.nlm.nih.gov/21077764 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
Nepřihlášeným uživatelům se plný text nezobrazuje	K zobrazení výsledku je třeba se přihlásit.