We have identified a 16 bp deletion in the 3' untranslated region of the alpha 2-globin gene, including the first nucleotide of the polyadenylation signal sequence. The propositus, her mother and one of her brothers, all heterozygotes for the above deletion, have mild microcytic anemia. This is the first description of a deletion in the alpha gene involving both the 3' untranslated region and the polyadenylation signal sequence, causing alpha-thalassemia.

alpha-thalassemia caused by a 16 bp deletion in the 3' untranslated region of the alpha 2-globin gene including the first nucleotide of the poly A signal sequence / H., Tamary; G., Klinger; L., Shalmon; D., Attias; Fortina, Paolo; M., Kobayashi; S., Surrey; R., Zaizov. - In: HEMOGLOBIN. - ISSN 0363-0269. - STAMPA. - 21:2(1997), pp. 121-130.

alpha-thalassemia caused by a 16 bp deletion in the 3' untranslated region of the alpha 2-globin gene including the first nucleotide of the poly A signal sequence.

FORTINA, PAOLO;
1997

Abstract

We have identified a 16 bp deletion in the 3' untranslated region of the alpha 2-globin gene, including the first nucleotide of the polyadenylation signal sequence. The propositus, her mother and one of her brothers, all heterozygotes for the above deletion, have mild microcytic anemia. This is the first description of a deletion in the alpha gene involving both the 3' untranslated region and the polyadenylation signal sequence, causing alpha-thalassemia.
1997
01 Pubblicazione su rivista::01a Articolo in rivista
alpha-thalassemia caused by a 16 bp deletion in the 3' untranslated region of the alpha 2-globin gene including the first nucleotide of the poly A signal sequence / H., Tamary; G., Klinger; L., Shalmon; D., Attias; Fortina, Paolo; M., Kobayashi; S., Surrey; R., Zaizov. - In: HEMOGLOBIN. - ISSN 0363-0269. - STAMPA. - 21:2(1997), pp. 121-130.
File allegati a questo prodotto
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/502766
 Attenzione

Attenzione! I dati visualizzati non sono stati sottoposti a validazione da parte dell'ateneo

Citazioni
  • ???jsp.display-item.citation.pmc??? 0
  • Scopus 7
  • ???jsp.display-item.citation.isi??? 6
social impact