A new beta-globin variant: Hb Sainte Eugénie [beta104(G6)Arg-->Trp] in a French Caucasian female.
Lacan
P
P
Molecular Pathology Unit, Department of Biochemistry, Edouard Herriot Hospital, Lyon, France.
Drai
J
J
Aubry
M
M
Francina
A
A
Orgiazzi
J
J
D000368:Aged; D019943:Amino Acid Substitution; D005260:Female; D014644:Genetic Variation; D005914:Globins / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics* / Q000378:metabolism*; D006801:Humans; D007525:Isoelectric Focusing; D010100:Oxygen / Q000378:metabolism; D017354:Point Mutation
D006455:Hemoglobins, Abnormal; C417532:hemoglobin Sainte Eugenie; C044399:hemoglobin Camperdown; C079325:hemoglobin Sherwood Forest; D005914:Globins; D010100:Oxygen