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Partial deletion of the 5' beta-globin gene region causes beta zero- thalassemia in members of an American black family
| Content Provider | Scilit |
|---|---|
| Author | Padanilam, Bj Felice, Ae Huisman, Th |
| Copyright Year | 1984 |
| Description | Restriction endonuclease mapping defined a partial deletion of about 1.35 kb in the beta-globin gene of a black American patient with hemoglobin S-beta zero-thalassemia and in his uncle with a beta zero- thalassemia trait. The 5′ endpoint of the deletion is about 600 bases upstream from the cap site, and the 3′ endpoint lies within about 500 bases from the 5 splice junction of the second intervening sequence. The deletion is different from that of a previously reported Indian beta zero-thalassemia allele, where 0.6 kb is deleted at the 3′ end of the beta-globin gene. |
| Related Links | https://ashpublications.org/blood/article-pdf/64/4/941/212938/941.pdf |
| Ending Page | 944 |
| Page Count | 4 |
| Starting Page | 941 |
| DOI | 10.1182/blood.v64.4.941.bloodjournal644941 |
| Journal | Blood |
| Issue Number | 4 |
| Volume Number | 64 |
| Language | English |
| Publisher | American Society of Hematology |
| Publisher Date | 1984-10-01 |
| Access Restriction | Open |
| Subject Keyword | Hematology Deletion Globin Gene Beta Globin Beta Zero Thalassemia Journal: Blood (Vol- 75, Issue- 4) |
| Content Type | Text |
| Resource Type | Article |