A spontaneous mutation produced a novel elongated beta-globin chain structural variant (Hb Agnana) with a thalassemia-like phenotype.
Ristaldi
M S
MS
Pirastu
M
M
Murru
S
S
Casula
L
L
Loudianos
G
G
Cao
A
A
Sciarratta
G V
GV
Agosti
S
S
Parodi
M I
MI
Leone
D
D
D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D005260:Female; D014644:Genetic Variation; D005914:Globins / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D010641:Phenotype; D013789:Thalassemia / Q000235:genetics*
D006455:Hemoglobins, Abnormal; C063374:hemoglobin Agnana; D005914:Globins