Hb F-Zhejiang: a Hb F variant due to a novel Ggamma mutation [Ggamma101(G3)Glu-->Gln, GAG>CAG] detected in a Chinese newborn.
A G>C substitution at position 479 of the (G)gamma-globin gene results in a glutamic acid to glutamine substitution at codon 101 of the (G)gamma-globin chain, a new gamma chain variant that we have named Hb F-Zhejiang [(G)gamma101(G3)Glu-->Gln].
Liao
Can
C
Prenatal Diagnostic Center, Guangzhou Maternal & Neonatal Hospital, Guangzhou Women & Children Medical Center, Guangzhou Medical College, Guangzhou, Guangdong, People's Republic of China.
Zhou
Jian-Ying
JY
Xie
Xing-Mei
XM
Li
Dong-Zhi
DZ
D019943:Amino Acid Substitution / Q000235:genetics*; D002681:China; D005260:Female; D005319:Fetal Hemoglobin / Q000235:genetics*; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D017354:Point Mutation; D055545:gamma-Globins / Q000235:genetics*
D055545:gamma-Globins; D005319:Fetal Hemoglobin