A new gene associated with a b-thalassemia phenotype: The observation of variants in SUPT5H

Επιστημονική δημοσίευση - Άρθρο Περιοδικού uoadl:3000119 41 Αναγνώσεις

Μονάδα:
Ερευνητικό υλικό ΕΚΠΑ
Τίτλος:
A new gene associated with a b-thalassemia phenotype: The observation of variants in SUPT5H
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Δεν υπάρχει περίληψη
Έτος δημοσίευσης:
2020
Συγγραφείς:
Achour, A.
Koopmann, T.
Castel, R.
Santen, G.W.E.
den Hollander, N.
Knijnenburg, J.
Ruivenkamp, C.A.L.
Arkesteijn, S.G.J.
Huurne, J.T.
Bisoen, S.
Verschuren, M.
Vijfhuizen, L.
Schaap, R.
Grimbergen, A.
Slomp, J.
Traeger-Synodinos, J.
Vrettou, C.
Pissard, S.
Galacteros, F.
Baas, F.
Harteveld, C.L.
Περιοδικό:
Blood advances
Εκδότης:
American Society of Hematology
Τόμος:
136
Αριθμός / τεύχος:
15
Σελίδες:
1789-1793
Λέξεις-κλειδιά:
hemoglobin beta chain; messenger RNA; peptides and proteins; RNA polymerase II; supt5h protein; tetramer; transcription elongation factor; transcription factor GATA 1; unclassified drug; biological marker; nuclear protein; SUPT5H protein, human; transcription elongation factor, adolescent; adult; aged; Arab; beta thalassemia; child; clinical article; controlled study; copy number variation; exon; familial disease; female; gene cluster; gene locus; gene mutation; genotype phenotype correlation; heterozygote; human; iron deficiency anemia; Letter; male; mean corpuscular volume; middle aged; phenotype; preschool child; priority journal; regulator gene; RNA sequencing; Sanger sequencing; school child; single nucleotide polymorphism; stop codon; thalassemia intermedia; very elderly; whole exome sequencing; beta thalassemia; genetic association study; genetic predisposition; genetic variation; genetics; procedures, beta-Thalassemia; Biomarkers; Female; Genetic Association Studies; Genetic Predisposition to Disease; Genetic Variation; Humans; Male; Nuclear Proteins; Transcriptional Elongation Factors
Επίσημο URL (Εκδότης):
DOI:
10.1182/blood.2020005934
Το ψηφιακό υλικό του τεκμηρίου δεν είναι διαθέσιμο.