Hb Alcorn County: A β-Globin Variant [β40(C6)Arg→Thr;

Alleles Amino Acid Substitution Chromatography, High Pressure Liquid DNA Mutational Analysis Genetic Predisposition to Disease Genotype Hemoglobinopathies / diagnosis Humans Infant Male Mutation Oxygen / metabolism Phenotype Protein Binding beta-Globins / analysis
None Hemoglobinopathy oxygen affinity β-Globin variant

Journal

Hemoglobin
ISSN: 1532-432X
Titre abrégé: Hemoglobin
Pays: England
ID NLM: 7705865

Informations de publication

Date de publication:
May 2019
Historique:
pubmed: 10 8 2019
medline: 6 2 2020
entrez: 10 8 2019
Statut: ppublish

Résumé

We describe Hb Alcorn County, a heterozygous hemoglobin (Hb) variant, in a 6-month-old Hispanic male and his mother. DNA sequencing demonstrated a mutation on the

Identifiants

DOI: 10.1080/03630269.2019.1649279 PMID: 31397596
pubmed: 31397596
doi: 10.1080/03630269.2019.1649279
doi:

Substances chimiques

beta-Globins 0
Oxygen S88TT14065

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

204-206

Auteurs

Hung S Luu (HS)

Department of Pathology, University of Texas Southwestern Medical Center , Dallas , TX , USA.
Department of Pathology, Children's Health , Dallas , TX , USA.

Timothy L McCavit (TL)

Hematology and Oncology Center, Cook Children's Health Care System , Fort Worth , TX , USA.

Jason Y Park (JY)

Department of Pathology, University of Texas Southwestern Medical Center , Dallas , TX , USA.
Department of Pathology, Children's Health , Dallas , TX , USA.
Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center , Dallas , TX , USA.

Midori Mitui (M)

Department of Pathology, Children's Health , Dallas , TX , USA.

Dania D Lopez (DD)

Department of Pathology, Children's Health , Dallas , TX , USA.

Charles F Timmons (CF)

Department of Pathology, University of Texas Southwestern Medical Center , Dallas , TX , USA.
Department of Pathology, Children's Health , Dallas , TX , USA.

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Classifications MeSH

questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Allèles › Hb Alcorn County: A β-Globin Variant [β40(C6)Arg→Thr;
questionsmedicales.fr › Phénomènes génétiques › Mutagenèse › Substitution d'acide aminé › Hb Alcorn County: A β-Globin Variant [β40(C6)Arg→Thr;
questionsmedicales.fr › Techniques d'investigation › Techniques de chimie analytique › Chromatographie › Chromatographie en phase liquide › Chromatographie en phase liquide à haute performance › Hb Alcorn County: A β-Globin Variant [β40(C6)Arg→Thr;
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › Analyse de mutations d'ADN › Hb Alcorn County: A β-Globin Variant [β40(C6)Arg→Thr;
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › Hb Alcorn County: A β-Globin Variant [β40(C6)Arg→Thr;
questionsmedicales.fr › Phénomènes génétiques › Génotype › Hb Alcorn County: A β-Globin Variant [β40(C6)Arg→Thr;
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Hémoglobinopathies › Hb Alcorn County: A β-Globin Variant [β40(C6)Arg→Thr;
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Hb Alcorn County: A β-Globin Variant [β40(C6)Arg→Thr;
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Hb Alcorn County: A β-Globin Variant [β40(C6)Arg→Thr;
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Hb Alcorn County: A β-Globin Variant [β40(C6)Arg→Thr;
questionsmedicales.fr › Produits chimiques inorganiques › Gaz › Oxygène › Hb Alcorn County: A β-Globin Variant [β40(C6)Arg→Thr;
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Hb Alcorn County: A β-Globin Variant [β40(C6)Arg→Thr;
questionsmedicales.fr › Métabolisme › Liaison aux protéines › Hb Alcorn County: A β-Globin Variant [β40(C6)Arg→Thr;
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Hémoprotéines › Globines › Hémoglobines › Sous-unités de l'hémoglobine › Globines bêta › Hb Alcorn County: A β-Globin Variant [β40(C6)Arg→Thr;