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Autosomal Dominant Craniometaphyseal Dysplasia Is Caused by Mutations in the Transmembrane Protein ANK

✍ 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

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DFNA8/12 caused by TECTA mutations is th
✍ Michael S. Hildebrand; MatΓ­as MorΓ­n; Nicole C. Meyer; Fernando Mayo; Silvia Moda πŸ“‚ Article πŸ“… 2011 πŸ› John Wiley and Sons 🌐 English βš– 476 KB

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