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Screening of a Greek deafness population for the A7445G mitochondrial DNA mutation

✍ Scribed by Haris Kokotas; Maria Grigoriadou; George S. Korres; Elisabeth Ferekidou; Dimitrios Kandiloros; Stavros Korres; Michael B. Petersen


Book ID
116988985
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
113 KB
Volume
100
Category
Article
ISSN
1096-7192

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Inherited palmoplantar keratoderma and s
✍ L. Martin; A. Toutain; C. Guillen; M. Haftek; M.C. Machet; C. Toledano; B. Arbei πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 494 KB

We report a French pedigree with members having an inherited combination of non-epidermolytic palmoplantar keratoderma (NEPPK) and sensorineural deafness. The penetrance of both features was incomplete. Additional ectodermal defects were absent. The expression of numerous epidermal proteins (keratin