IVS-II-16 (G>C) (

Humans Mutation Phenotype Sickle Cell Trait beta-Globins / genetics beta-Thalassemia / diagnosis
Hb S trait Hb S/β+-thalassemia (Hb S/β+-thal) Hb S/β-thalassemia (Hb S/β-Thal) IVS-II-16 (G>C) IVS-II-666 (C>T)

Journal

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

Informations de publication

Date de publication:
Jul 2021
Historique:
pubmed: 17 8 2021
medline: 17 3 2022
entrez: 16 8 2021
Statut: ppublish

Résumé

Sickle cell trait is a medical condition caused by the presence of both mutant Hb S (

Identifiants

DOI: 10.1080/03630269.2021.1965620 PMID: 34396882
pubmed: 34396882
doi: 10.1080/03630269.2021.1965620
doi:

Substances chimiques

beta-Globins 0

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

225-227

Auteurs

Süheyl Uçucu (S)

Department of Medical Biochemistry, Muğla Public Health Care Laboratory, Muğla, Turkey.
ORCID: 0000-0002-6320-2457

Talha Karabıyık (T)

Department of Medical Biochemistry, Bursa City Hospital, Bursa, Turkey.
ORCID: 0000-0002-1339-7348

Fatih M Azik (FM)

Department of Pediatric Hematology-Oncology, Faculty of Medicine, Muğla Sıtkı Koçman University, Muğla, Turkey.
ORCID: 0000-0001-5715-4244

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › IVS-II-16 (G>C) (
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › IVS-II-16 (G>C) (
questionsmedicales.fr › Phénomènes génétiques › Phénotype › IVS-II-16 (G>C) (
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Hémoglobinopathies › Drépanocytose › Trait drépanocytaire › IVS-II-16 (G>C) (
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Hémoprotéines › Globines › Hémoglobines › Sous-unités de l'hémoglobine › Globines bêta › IVS-II-16 (G>C) (
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Hémoglobinopathies › Thalassémie › bêta-Thalassémie › IVS-II-16 (G>C) (