Hb East Timor [β80(EF4)Asn→His, AACCAC (HBB c.241AC)], a variant hemoglobin associated with normal hematology

Autor:	Christopher Newbound, Michelle Jennens, Jill Finlayson, Claire Macaulay, Paula Holmes, Reza Ghassemifar, Lisa Figliomeni, Laura Greenwood, Michael Kersten, Nicole Pell, Dianne Grey, John Beilby
Rok vydání:	2010
Předmět:	Adult Male medicine.medical_specialty Adolescent Hemoglobins Abnormal Timor-Leste Clinical Biochemistry DNA Mutational Analysis Mutation Missense beta-Globins Biology Internal medicine medicine Missense mutation Humans Asparagine Child Genetics (clinical) Histidine Chromatography High Pressure Liquid chemistry.chemical_classification Family Health Hematology Base Sequence RED-CELL INDICES Biochemistry (medical) Hydrogen-Ion Concentration Molecular biology Normal limit Amino acid chemistry Biochemistry Female Hemoglobin
Zdroj:	Hemoglobin. 34(6)
ISSN:	1532-432X
Popis:	Routine hemoglobin (Hb) analyses identified a new β-globin variant in a family from East Timor. The red cell indices were within normal limits for all affected family members. The variant is due to a missense mutation at amino acid codon 80 (AAC>CAC) which results in the substitution of histidine for asparagine.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40611badd85fcbd35500e6ea5cb3c866 https://pubmed.ncbi.nlm.nih.gov/21077763 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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