✦ LIBER ✦

A novel missense mutation in COL7A1 in a Chinese pedigree with epidermolysis bullosa pruriginosa

✍ Scribed by Wang, Yang; Zhao, Junyu; Tu, Ping; Jiang, Wei; Zhu, Xuejun

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel missense mutation in the COL7A1

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

A novel missense mutation in the COL7A1

✍ G. S. Chuang; A. Martinez-Mir; H.-S. Yu; F.-Y. Sung; R. Y. Chuang; P. B. Cserhal 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 174 KB

An Incompletely Penetrant Novel Mutation

✍ Catherine S. Yang; Yin Lu; Anita Farhi; Carol Nelson-Williams; Michael Kashgaria 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 472 KB

A splicing mutation in the COL7A1 gene c

✍ X. Ren; J.Y. Liu; L.Y. Zhai; Q. Yao; X. Dai; Z. Cai; P. Liu; K. Sun; C. Huang; Q 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 266 KB

Allelic heterogeneity of type VII collag

✍ Mellerio, J.E.; Ashton, G.H.S.; Salas-Alanis, J.C.; Lyon, C.C.; Griffiths, W.A.D 📂 Article 📅 1998 🏛 Elsevier Science 🌐 English ⚖ 195 KB

Novel and recurrent COL7A1 mutations in

✍ Rodríguez, Fernando A.; Gana, María José; Yubero, María Joao; Zillmann, Gisela; 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 465 KB