Autosomal Dominant Craniometaphyseal Dysplasia Is Caused by Mutations in the Transmembrane Protein ANK
β Scribed by Ernst Reichenberger; Valdenize Tiziani; Shoji Watanabe; Lucy Park; Yasuyoshi Ueki; Carla Santanna; Scott T. Baur; Rita Shiang; Dorothy K. Grange; Peter Beighton; Jessica Gardner; Herman Hamersma; Sean Sellars; Rajkumar Ramesar; Andrew C. Lidral; Annmarie Sommer; Cassio M. Raposo do Amaral; Robert J. Gorlin; John B. Mulliken; Bjorn R. Olsen
- Book ID
- 117853630
- Publisher
- American Society of Human Genetics
- Year
- 2001
- Tongue
- English
- Weight
- 793 KB
- Volume
- 68
- Category
- Article
- ISSN
- 0002-9297
- DOI
- 10.1086/320612
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π SIMILAR VOLUMES
The prevalence of DFNA8/DFNA12 (DFNA8/12), a type of autosomal dominant nonsyndromic hearing loss (ADNSHL), is unknown as comprehensive population-based genetic screening has not been conducted. We therefore completed unbiased screening for TECTA mutations in a Spanish cohort of 372 probands from AD