Four new variants of the alpha2-globin gene without clinical or hematologic effects: Hb Park Ridge [alpha9(alpha7)Asn-->Lys (alpha2)], Hb Norton [alpha72(EF1)His-->Asp (alpha2)], Hb Lombard [alpha103(G10)His-->Tyr (alpha2)], and Hb San Antonio [A113(GH2)Leu-->Arg (A2)].
Hoyer
James D
JD
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.
McCormick
Daniel J
DJ
Snow
Karen
K
Kwon
Jong H
JH
Booth
David
D
Duarte
Manuel
M
Grayson
Guy
G
Kubik
Kathleen S
KS
Holmes
Michael W
MW
Fairbanks
Virgil F
VF
D000328:Adult; D004252:DNA Mutational Analysis / Q000379:methods; D014644:Genetic Variation; D005914:Globins / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype; D017354:Point Mutation; D017421:Sequence Analysis; D021241:Spectrometry, Mass, Electrospray Ionization; D014481:United States
D006455:Hemoglobins, Abnormal; D005914:Globins