Novel human pathological mutations. Gene symbol: HBB. Disease: haemoglobin variant.
Refaldi
Chiara
C
Fondazione Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milan, Italy. chiararefaldi@hotmail.com
Zanella
Alberto
A
Cappellini
Maria Domenica
MD
D001483:Base Sequence; D003062:Codon; D004252:DNA Mutational Analysis; D006454:Hemoglobins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007558:Italy; D008969:Molecular Sequence Data; D009154:Mutation; D009711:Nucleotides / Q000235:genetics*; D011086:Polycythemia / Q000235:genetics*
D003062:Codon; D006454:Hemoglobins; D009711:Nucleotides; C020622:hemoglobin B