Hb Rampa [alpha 95(G2)pro-->Ser (alpha 2)] in a family of European ancestry: DNA analysis confirms the CCG-->TCG mutation at codon 95 of the alpha 2-globin gene; clinical and laboratory features.
Hoyer
James D
JD
Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street, Rochester, MN 55905, USA.
Rachut
Eric
E
Kubik
Kathleen S
KS
Jones
Richard T
RT
Honig
George R
GR
Vida
Loyda N
LN
Fairbank
Virgil F
VF
D000328:Adult; D000368:Aged; D019943:Amino Acid Substitution / Q000235:genetics*; D002648:Child; D003062:Codon / Q000235:genetics*; D003596:Cytosine / Q000378:metabolism; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D005914:Globins / Q000235:genetics*; D006147:Guanine / Q000378:metabolism; D006455:Hemoglobins, Abnormal / Q000737:chemistry* / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D011392:Proline / Q000235:genetics; D012694:Serine / Q000235:genetics; D013941:Thymine / Q000378:metabolism
D003062:Codon; D006455:Hemoglobins, Abnormal; D012694:Serine; D006147:Guanine; D003596:Cytosine; D005914:Globins; D011392:Proline; D013941:Thymine