title: A de novo ankyrin mutation (ANK1 Q109X) causing severe hereditary spherocytosis from preterm neonatal period.
authors.affiliation: Department of Hematology/Oncology, Guangzhou Women & Children Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China.
authors.forename: Sha
authors.initials: S
authors.lastname: Liu
authors.affiliation: Department of Hematology/Oncology, Guangzhou Women & Children Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China.
authors.forename: Hua
authors.initials: H
authors.lastname: Jiang
authors.affiliation: Molecular Genetics Unit, Guangzhou Women & Children Medical Center affiliated to Guangzhou Medical University, Jinsui Road 9, Zhujiang New Town, Guangzhou, Guangdong, 510623, China.
authors.forename: Lv-Yin
authors.initials: LY
authors.lastname: Huang
authors.affiliation: Molecular Genetics Unit, Guangzhou Women & Children Medical Center affiliated to Guangzhou Medical University, Jinsui Road 9, Zhujiang New Town, Guangzhou, Guangdong, 510623, China. drlidongzhi2014@sina.com.
authors.forename: Dong-Zhi
authors.initials: DZ
authors.lastname: Li
mesh_terms: D019943:Amino Acid Substitution; D017487:Ankyrins / Q000737:chemistry / Q000235:genetics*; D001803:Blood Transfusion; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D007235:Infant, Premature, Diseases / Q000235:genetics*; D007567:Jaundice, Neonatal / Q000209:etiology / Q000628:therapy; D020125:Mutation, Missense; D017354:Point Mutation; D013103:Spherocytosis, Hereditary / Q000097:blood / Q000235:genetics* / Q000628:therapy
chemical_list: C110202:ANK1 protein, human; D017487:Ankyrins