De novo beta-globin gene mutation [beta 63(E7)His-->Tyr] giving rise to Hb M disease in a Newfoundlander.
Waye
J S
JS
Provincial Hemoglobinopathy DNA Diagnostic Laboratory, McMaster University Medical Centre Hamilton, Ontario, Canada.
Patterson
M
M
Eng
B
B
D000328:Adult; D001483:Base Sequence; D003490:Cyanosis / Q000097:blood / Q000235:genetics; D004252:DNA Mutational Analysis; D015252:Deoxyribonucleases, Type II Site-Specific; D005260:Female; D005914:Globins / Q000235:genetics*; D006453:Hemoglobinopathies / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000032:analysis / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009523:Newfoundland and Labrador; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction
D006455:Hemoglobins, Abnormal; C028907:hemoglobin Saskatoon; D005914:Globins; C048422:endodeoxyribonuclease NlaIII; D015252:Deoxyribonucleases, Type II Site-Specific