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A maternally inherited diabetes and deafness patient with the 12S rRNA m.1555A>G and the ND1 m.3308T>C mutations associated with multiple mitochondrial deletions

✍ Scribed by Mezghani, Najla; Mnif, Mouna; Mkaouar-Rebai, Emna; Kallel, Nozha; Charfi, Nadia; Abid, Mohamed; Fakhfakh, Faiza


Book ID
121307545
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
648 KB
Volume
431
Category
Article
ISSN
0006-291X

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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