Whole exome sequencing identified a novel mutation (p.Ala1884Pro) of β-spectrin in a Chinese family with hereditary spherocytosis. [electronic resource]
Producer: 20200406Description: e3073 p. digitalISSN:- 1521-2254
- 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
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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