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