✦ LIBER ✦

A novel p.Leu213X mutation in GJB2 gene in a Portuguese family

✍ Scribed by Ana Cláudia Gonçalves; Joana Chora; Tiago D. Matos; Ricardo Santos; Assunção O’Neill; Pedro Escada; Graça Fialho; Helena Caria

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Identification of 605ins46, a novel GJB2

✍ Isamu Yuge; Akihiro Ohtsuka; Tatsuo Matsunaga; Shin-ichi Usami 📂 Article 📅 2002 🏛 Elsevier Science 🌐 English ⚖ 335 KB

A novel deletion mutation in GJB1 causes

✍ Pengfei Lin; Fei Mao; Qiji Liu; Wanling Yang; Changshun Shao; Chuanzhu Yan; Yaoq 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 633 KB

A Novel SACS Gene Mutation in a Tunisian

✍ Yosr Bouhlal; Ghada El Euch-Fayeche; Fayçal Hentati; Rim Amouri 📂 Article 📅 2009 🏛 Humana Press Inc 🌐 English ⚖ 173 KB

Two Iranian families with a novel mutati

✍ Niloofar Bazazzadegan; Abraham M. Sheffield; Masoomeh Sobhani; Kimia Kahrizi; Ni 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 701 KB

Two novel factor X gene mutations in a C

✍ W.Y. Au; C.C.K. Lam; W.C. Cheung; Y.L. Kwong 📂 Article 📅 2004 🏛 Springer 🌐 English ⚖ 150 KB

The novel c.247_249delTTC (p.F83del) GJB

✍ Michael B. Petersen; Maria Grigoriadou; Maria Koutroumpe; Haris Kokotas 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 279 KB