Unstable Hb Perth in a Taiwanese subject: a T-->C substitution at codon 32 of the beta-globin gene creates an MspI site.
Chang
Jan-Gowth
JG
Department of Laboratory Medicine and Pediatrics, China Medical College Hospital, Taichung, Taiwan. d6781@www.cmch.org.tw
Liu
Hsi-Che
HC
Shih
Mu-Chin
MC
Liu
Su-Ching
SC
Chan
Wen-Ling
WL
Tsai
Fuu-Jen
FJ
D019943:Amino Acid Substitution; D002648:Child; D003062:Codon / Q000235:genetics; D019003:Deoxyribonuclease HpaII; D005914:Globins / Q000737:chemistry / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011489:Protein Denaturation; D013624:Taiwan
D003062:Codon; D006455:Hemoglobins, Abnormal; C092638:hemoglobin Perth-Abraham Lincoln; D005914:Globins; D019003:Deoxyribonuclease HpaII