1.
Hum Mutat
; 2(2): 152-4, 1993.
Artículo
en Inglés
| MEDLINE
| ID: mdl-8318994
2.
Biomed Sci
; 1(3): 300-4, 1990 Mar.
Artículo
en Inglés
| MEDLINE
| ID: mdl-1983314
RESUMEN
Beta zero-thalassaemia comprises a series of closely related haemoglobinopathies which are widely spread in some areas (the Mediterranean, Caucasus, Central Asia, and others). It is caused by a variety of mutations in the beta-globin gene which damage its expression, thus leading to severe illness, which is often lethal at an early age. By means of the polymerase chain reaction (PCR), restriction analysis, and sequencing by the Maxam-Gilbert method, we have identified a number of mutations in the beta-globin gene that cause beta zero-thalassaemia in the Azerbaijanian population, viz AA deletion in codon 8, C----T transition in codon 39, and a previously unknown G deletion in codons 82/83.
Asunto(s)
Talasemia/genética , Azerbaiyán , Secuencia de Bases , ADN/genética , Análisis Mutacional de ADN , Globinas/genética , Haplotipos/genética , Humanos , Lactante , Datos de Secuencia Molecular , Polimorfismo de Longitud del Fragmento de Restricción
3.
Nucleic Acids Res
; 17(10): 3997, 1989 May 25.
Artículo
en Inglés
| MEDLINE
| ID: mdl-2525253