✦ LIBER ✦

Atypical presentation of pattern dystrophy in two families with peripherin/RDS mutations

✍ Scribed by Sandeep Grover; Gerald A Fishman; Edwin M Stone

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Splice site mutation in the peripherin/R

✍ Jonathan E Sears; Thomas A Aaberg Sr; Stephen P Daiger; Darius M Moshfeghi 📂 Article 📅 2001 🏛 Elsevier Science 🌐 English ⚖ 305 KB

Two novel mutations (Y141H; C214Y) and p

✍ María José Trujillo; María Martinez-Gimeno; Ascensión Giménez; Isabel Lorda; Jos 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 11 KB 👁 1 views

A Novel Mutation of the TGFBI Gene Found

✍ Nguyen Thanh Ha; Le Xuan Cung; Hoang Minh Chau; Ton Kim Thanh; Keiko Fujiki; Aki 📂 Article 📅 2003 🏛 Springer 🌐 English ⚖ 127 KB

Novel L558P Mutation of the TGFBI Gene F

✍ Pampukha, Volodymyr M.; Kravchenko, Sergey A.; Tereshchenko, Feodor A.; Livshits 📂 Article 📅 2009 🏛 S. Karger AG 🌐 English ⚖ 291 KB

Complete skipping of exon 66 due to nove

✍ Tri Wibawa; Yasuhiro Takeshima; Izuru Mitsuyoshi; Hiroko Wada; Agus Surono; Haji 📂 Article 📅 2000 🏛 Elsevier Science 🌐 English ⚖ 231 KB

Two novel RAD21 mutations in patients wi

✍ Minor, Agata; Shinawi, Marwan; Hogue, Jacob S.; Vineyard, Marisa; Hamlin, Damara 📂 Article 📅 2014 🏛 Elsevier Science 🌐 English ⚖ 629 KB