Hereditary spherocytosis due to a novel frameshift mutation in AE1 cytoplasmic COOH terminal tail: band 3 Vesuvio.
Perrotta
S
S
Polito
F
F
Cone
M L
ML
Nobili
B
B
Cutillo
S
S
Nigro
V
V
Iolascon
A
A
Amendola
G
G
D001457:Anion Exchange Protein 1, Erythrocyte / Q000235:genetics*; D002648:Child; D016368:Frameshift Mutation; D006801:Humans; D007558:Italy; D018807:Polymorphism, Single-Stranded Conformational; D012333:RNA, Messenger / Q000032:analysis; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013103:Spherocytosis, Hereditary / Q000235:genetics*
D001457:Anion Exchange Protein 1, Erythrocyte; D012333:RNA, Messenger