✦ LIBER ✦

A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndrome

✍ Scribed by E.A. de Zwart-Storm; M. van Geel; E. Veysey; S. Burge; S. Cooper; P.M. Steijlen; P.E. Martin; M.A.M. van Steensel

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Vohwinkel Syndrome secondary to missense

✍ Pedro J. Serrano Castro; Cristina Naranjo Fernandez; Pablo Quiroga Subirana; Man 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 186 KB

Homozygosity for a FBN1 missense mutatio

✍ Hogue, J; Lee, C; Jelin, A; Strecker, MN; Cox, VA; Slavotinek, AM 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 615 KB

A novel homozygous missense mutation in

✍ Nakano, Hajime; Akasaka, Eijiro; Rokunohe, Daiki; Yokoyama, Shohei; Toyomaki, Yu 📂 Article 📅 2008 🏛 Elsevier Science 🌐 English ⚖ 332 KB

Novel missense mutation in the cyclic nu

✍ Satler, Carol Ann; Walsh, Edward P.; Vesely, Mark R.; Plummer, Mark H.; Ginsburg 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 917 KB

Novel delta subunit mutation in slow-cha

✍ Christopher M. Gomez; Ricardo A. Maselli; Bhupinder P. S. Vohra; Manuel Navedo; 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 667 KB

A novel missense mutation in the COL7A1

✍ B.-J. Shi; J. Feng 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 164 KB