Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Karine Foulon"'
Publikováno v:
Hemoglobin. 33:274-278
We report the first identification of a point mutation located within the promoter region of the beta-globin gene at position -83 (G>A) and associated with the common heterozygous deletional alpha-thalassemia (alpha-thal) (-alpha(3.7)/alphaalpha). Th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be2d3b7d0d10c592f9ae097f3d618a35
https://doi.org/10.1080/03630260903081323
https://doi.org/10.1080/03630260903081323
Publikováno v:
Hemoglobin. 31(1)
We have identified and characterized a novel beta-thalassemic mutation in a North African adult. The molecular defect consists of a two nucleotide (nt) deletion in the beta-globin gene at codon 76 [beta76 (-GC), c.229-230delGC]. This frameshift mutat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e43e8abfd4b89a3feadf4eb15c775f4
https://pubmed.ncbi.nlm.nih.gov/17365003
https://pubmed.ncbi.nlm.nih.gov/17365003
Publikováno v:
Blood. 112:5422-5422
Carriers of typical β thalassemia alleles have microcytic hypochromic red blood cells with elevated Hb A2 values and a normal or slightly elevated level of Hb F. The increased level of Hb A2 is a reliable marker for heterozygous beta-thalassemia whi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d5405b415d8b34cf4c630a8ffcfcfd14
https://doi.org/10.1182/blood.v112.11.5422.5422
https://doi.org/10.1182/blood.v112.11.5422.5422