Fan, Liang-Liang

Whole exome sequencing identified a novel mutation (p.Ala1884Pro) of β-spectrin in a Chinese family with hereditary spherocytosis. [electronic resource] - The journal of gene medicine 02 2019 - e3073 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1521-2254

10.1002/jgm.3073 doi


Adult
Aged
Amino Acid Sequence
Asian People--genetics
Base Sequence
China
Family Health
Female
Genetic Predisposition to Disease--ethnology
Humans
Male
Middle Aged
Mutation, Missense
Pedigree
Sequence Homology, Amino Acid
Spectrin--genetics
Spherocytosis, Hereditary--ethnology
Exome Sequencing--methods