Detection of an IVS-1 3' end (G-C) beta-thalassemia mutation in the AG invariant dinucleotide of the acceptor splice site in a Sicilian subject.
Renda
M
M
Servizio Terapia e Prevenzione Talassemia, V. Cervello Hospital, Palermo, Italy.
Maggio
A
A
Warren
T C
TC
Kazazian
H H
HH
D001483:Base Sequence; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D005260:Female; D005914:Globins / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D009838:Oligodeoxyribonucleotides / Q000235:genetics; D012326:RNA Splicing / Q000235:genetics*; D012802:Sicily; D013789:Thalassemia / Q000235:genetics*
D009838:Oligodeoxyribonucleotides; D005914:Globins; D015252:Deoxyribonucleases, Type II Site-Specific; C062194:endodeoxyribonuclease SauI