Studies on the in vitro and in vivo expression of a dysfunctional α-globin gene
In: American journal of hematology, Jg. 39 (1992), Heft 3, S. 188-193
Online
academicJournal
- print, 36 ref
Zugriff:
In a black family with members having a-thalassemia and hemoglobin H (HbH) disease, a deletion of an AG dinucleotide at the 3'end of exon 1 near the junction with intron 1 was shown previously to produce a dysfunctional α-thalassemia gene with a reading frame-shift and a nonsense codon (Safaya S, Rieder RF: J Biol Chem 263:43284332, 1988). We have found that the same mutation is responsible for α-thalassemia and HbH disease in a second unrelated black family (Bellevue R, Dosik H, Rieder RF: Br J Haematol 41:193-202, 1979).
Titel: |
Studies on the in vitro and in vivo expression of a dysfunctional α-globin gene
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Autor/in / Beteiligte Person: | SAFAYA, S ; TRAUBER, D. R ; RIEDER, R. F |
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Zeitschrift: | American journal of hematology, Jg. 39 (1992), Heft 3, S. 188-193 |
Veröffentlichung: | New York, NY: Wiley-Liss, 1992 |
Medientyp: | academicJournal |
Umfang: | print, 36 ref |
ISSN: | 0361-8609 (print) |
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