✦ LIBER ✦

A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis

✍ Scribed by Gerber, Sylvie; Perrault, Isabelle; Hanein, Sylvain; Shalev, Stavit; Zlotogora, Joel; Barbet, Fabienne; Ducroq, Dominique; Dufier, Jean-Louis; Munnich, Arnold; Rozet, Jean-Michel; Kaplan, Josseline

Book ID: 125420849
Publisher: Informa plc
Year: 2002
Tongue: English
Weight: 157 KB
Volume: 23
Category: Article
ISSN: 1381-6810
DOI: 10.1076/opge.23.4.225.13879

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel point mutation affecting the tyr

A novel point mutation affecting the tyrosine kinase domain of the nerve growth factor receptor gene, TRKA, in a family with congenital insensitivity to pain with anhidrosis

✍ Yotsumoto, Shinichi; Setoyama, Mitsuru; Hozumi, Hideki; Fukumaru, Seita; Mizoguc 📂 Article 📅 1998 🏛 Elsevier Science 🌐 English ⚖ 184 KB

A Novel Mutation and Large Size Polymorp

A Novel Mutation and Large Size Polymorphism Affecting the V2 Domain of Keratin 1 in an African-American Family with Severe, Diffuse Palmoplantar Keratoderma of the Ichthyosis Hystrix Curth–Macklin Type

✍ Richardson, Elizabeth S; Lee, Jason B; Hyde, Patricia H; Richard, Gabriele 📂 Article 📅 2006 🏛 Nature Publishing Group 🌐 English ⚖ 210 KB