Annotation error of a common β°-thalassemia mutation (619 bp-deletion) has implications for molecular diagnosis.
Colin C
CC
Pritchard
Jonathan F
JF
Tait
Arlene M
AM
Buller-Burckle
Mario
M
Mikula
D000328:Adult; D030561:Databases, Nucleic Acid / Q000592:standards; D003951:Diagnostic Errors; D005260:Female; D005820:Genetic Testing; D006801:Humans; D058977:Molecular Sequence Annotation / Q000592:standards*; D017384:Sequence Deletion; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000235:genetics