b-thalassemia intermedia resulting from compound heterozigosity for an IVSI-1 (G-A) and a silent 5' UTR +33 (C-G) mutations.
Bento
M C
MC
Ribeiro
M L
ML
Cunha
E
E
Gonçalves
P
P
Martin-Nuñez
G
G
Tamagnini
G
G
D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D008875:Middle Aged; D010641:Phenotype; D017354:Point Mutation; D013030:Spain; D013156:Splenectomy; D017086:beta-Thalassemia / Q000235:genetics* / Q000628:therapy