title: The Codon 35 (A > G) (HBB: c.107A > G) at the α-β Chain Interface of the β-Globin Gene: A Silent Mutation?
abstract: Tyr35β is located at the convergence of the α1β1, α1β2 and α1α2 interfaces of Hb A. We here report a Chinese family in whom the codon 35 (A > G) (HBB: c.107A > G) mutation of the β-globin gene was not associated with the thalassemic phenotype previously described.
authors.affiliation: a Prenatal Diagnostic Center, Guangzhou Women & Children Medical Center affiliated to Guangzhou Medical University , Guangdong , People's Republic of China.
authors.forename: Man-Yu
authors.initials: MY
authors.lastname: Wu
authors.affiliation: a Prenatal Diagnostic Center, Guangzhou Women & Children Medical Center affiliated to Guangzhou Medical University , Guangdong , People's Republic of China.
authors.forename: Dong-Zhi
authors.initials: DZ
authors.lastname: Li
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D002681:China; D003062:Codon; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D000069456:Silent Mutation; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D003062:Codon; D055544:beta-Globins
keywords: codon 35; mutation; β-globin gene