The novo 4 BP deletion in the codons 20/21 (-TGGA) at the first exon of the beta-globin gene causing a beta0-thalassemia in a Spanish male.
Paloma
P
Ropero
Fernando Ataulfo
FA
González
Jose Manuel Calvo
JM
Villas
Rosa
R
Paúl
Ana
A
Villegas
D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D003062:Codon / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D005914:Globins / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D017384:Sequence Deletion / Q000235:genetics*; D013030:Spain; D017086:beta-Thalassemia / Q000235:genetics*
D003062:Codon; D005914:Globins