Carrier detection in Duchenne muscular dystropy.
We investigated the number of echinocytes, the serum hemopexin level, and spectrin band II phosphorylation in the blood of normal subjects, patients, and carriers of Duchenne dystrophy. The patients and carriers exhibited quantitatively significant differences with respect to controls.
D004913:Erythrocytes, Abnormal / Q000473:pathology; D006580:Genetic Carrier Screening / Q000379:methods*; D006466:Hemopexin / Q000032:analysis; D006801:Humans; D009136:Muscular Dystrophies / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D010766:Phosphorylation; D013049:Spectrin / Q000032:analysis
D013049:Spectrin; D006466:Hemopexin