## Abstract A number of studies have confirmed that genetic factors play an important role in autism spectrum disorder (ASD). More recently de novo mutations in the __SHANK3__ gene, a synaptic scaffolding protein, have been associated with the ASD phenotype. As part of our gene discovery strategy,
The spectrum of mutations in erythrokeratodermias - novel and de novo mutations in GJB3
β Scribed by G. Richard; N. Brown; L.E. Smith; A. Terrinoni; G. Melino; R.M. MacKie; S.J. Bale; J. Uitto
- Publisher
- Springer
- Year
- 2000
- Tongue
- English
- Weight
- 377 KB
- Volume
- 106
- Category
- Article
- ISSN
- 0340-6717
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