A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome. [electronic resource]
Producer: 20090416Description: 328-35 p. digitalISSN:- 1552-4833
- Adult
- Chromosomes, Human, X
- DNA Mutational Analysis
- Exons
- Genes, X-Linked
- Genetic Linkage
- Humans
- Intellectual Disability -- genetics
- Male
- Marfan Syndrome -- genetics
- X-Linked Intellectual Disability -- genetics
- Mutation, Missense
- Osteoporosis -- genetics
- Pedigree
- Scoliosis -- genetics
- Siblings
- Spermine Synthase -- genetics
- Young Adult
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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