✦ LIBER ✦

A Novel Mutation in SURF1 Causes Skipping of Exon 8 in a Patient with Cytochrome c Oxidase-Deficient Leigh Syndrome and Hypertrichosis

✍ Scribed by Siôn L Williams; Jan-Willem Taanman; Hana Hansı́ková; Hana Houšt'ková; Subir Chowdhury; Jiřı́ Zeman; Josef Houštěk

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Two novel mutations of SURF1 in Leigh sy

✍ M. Teraoka; Y. Yokoyama; S. Ninomiya; C. Inoue; S. Yamashita; Y. Seino 📂 Article 📅 1999 🏛 Springer 🌐 English ⚖ 238 KB

A novel SURF1 mutation results in Leigh

✍ L Santoro; R Carrozzo; A Malandrini; F Piemonte; C Patrono; M Villanova; A Tessa 📂 Article 📅 2000 🏛 Elsevier Science 🌐 English ⚖ 168 KB

Missense mutations in SURF1 associated w

✍ A. Poyau; K. Buchet; M. Fouad Bouzidi; M.-T. Zabot; B. Echenne; J. Yao; E.A. Sho 📂 Article 📅 2000 🏛 Springer 🌐 English ⚖ 639 KB

Mutations in the SURF1 gene associated w

✍ Marie O. Péquignot; Runu Dey; Massimo Zeviani; Valeria Tiranti; Catherine Godino 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 304 KB

SURF1, encoding a factor involved in the

✍ Shoubridge, Eric A.; Zhu, Zhiqing; Yao, Jianbo; Johns, Timothy; Fu, Katherine; B 📂 Article 📅 1998 🏛 Nature Publishing Group 🌐 English ⚖ 424 KB

Sequence conservation from human to prok

✍ Alain Poyau; Karine Buchet; Catherine Godinot 📂 Article 📅 1999 🏛 Elsevier Science 🌐 English ⚖ 363 KB