Eight novel mutations of CBS gene in nine Chinese patients with classical homocystinuria. [electronic resource]
Producer: 20181019Description: 197-203 p. digitalISSN:- 1867-0687
- Adolescent
- Asian People -- genetics
- Child
- Child, Preschool
- China
- DNA Mutational Analysis
- Female
- Genetic Predisposition to Disease
- Homocystinuria -- diagnosis
- Humans
- Male
- Methionine Sulfoxide Reductases -- genetics
- Microfilament Proteins
- Mutation, Missense
- Predictive Value of Tests
- Retrospective Studies
- Sampling Studies
- Severity of Illness Index
- Transcription Factors -- genetics
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Publication Type: Comparative Study; Journal Article
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