✦ LIBER ✦

Mutations in KERA, encoding keratocan, cause cornea plana

✍ Scribed by de la Chapelle, Albert; Pellegata, Natalia S.; Dieguez-Lucena, Jose L.; Joensuu, Tarja; Lau, Stephanie; Montgomery, Kate T.; Krahe, Ralf; Kivelä, Tero; Kucherlapati, Raju; Forsius, Henrik

Book ID: 109828236
Publisher: Nature Publishing Group
Year: 2000
Tongue: English
Weight: 714 KB
Volume: 25
Category: Article
ISSN: 1061-4036
DOI: 10.1038/75664

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutations in SLC6A19, encoding B0AT1, ca

Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder

✍ Romeo, Elisa; Ristic, Zorica; Ohura, Toshihiro; Stuart, Caroline; Arcos-Burgos, 📂 Article 📅 2004 🏛 Nature Publishing Group 🌐 English ⚖ 361 KB

Deleterious Mutations in the Zinc-Finger

Deleterious Mutations in the Zinc-Finger 469 Gene Cause Brittle Cornea Syndrome

✍ Almogit Abu; Moshe Frydman; Dina Marek; Eran Pras; Uri Nir; Haike Reznik-Wolf; E 📂 Article 📅 2008 🏛 American Society of Human Genetics 🌐 English ⚖ 701 KB

Mutations in the gene encoding ɛ-sarcogl

Mutations in the gene encoding ɛ-sarcoglycan cause myoclonus–dystonia syndrome

✍ Zimprich, Alexander; Grabowski, Monika; Asmus, Friedrich; Naumann, Markus; Berg, 📂 Article 📅 2001 🏛 Nature Publishing Group 🌐 English ⚖ 530 KB

Truncating mutations in CCM1, encoding K

Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas

✍ Tournier-Lasserve, Elisabeth; Couteulx, Sophie Laberge-le; Jung, Hans H.; Labaug 📂 Article 📅 1999 🏛 Nature Publishing Group 🌐 English ⚖ 714 KB

Mutations in ATP2A2, encoding a Ca2+ pum

Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease

✍ Strachan, Tom; Hovnanian, Alain; Sakuntabhai, Anavaj; Ruiz-Perez, Victor; Carter 📂 Article 📅 1999 🏛 Nature Publishing Group 🌐 English ⚖ 337 KB

Mutations in HAO1 encoding glycolate oxi

Mutations in HAO1 encoding glycolate oxidase cause isolated glycolic aciduria

✍ Frishberg, Yaacov (author);Zeharia, Avraham (author);Lyakhovetsky, Roman (author 📂 Article 📅 2014 🏛 BMJ Publishing Group 🌐 English ⚖ 981 KB