✦ LIBER ✦

Mutations of the PAX6 Gene Detected in Patients with a Variety of Optic-Nerve Malformations

✍ Scribed by Noriyuki Azuma; Yuki Yamaguchi; Hiroshi Handa; Keiko Tadokoro; Atsuko Asaka; Eriko Kawase; Masao Yamada

Book ID: 117854233
Publisher: American Society of Human Genetics
Year: 2003
Tongue: English
Weight: 328 KB
Volume: 72
Category: Article
ISSN: 0002-9297
DOI: 10.1086/375555

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Analysis of aniridia patients for mutati

Analysis of aniridia patients for mutations in the PAX6 gene

✍ M. Wolf; B. Zabel; B. Lorenz; A. Blankenagel; M. B. Ghorbani; O. Schwenn; G. Wil 📂 Article 📅 1998 🏛 Springer 🌐 German ⚖ 120 KB

Identification of a novel PAX6 gene muta

Identification of a novel PAX6 gene mutation in an Aniridia patient

✍ Iman Sahly; Marc Abitbol; Claudine Laurent; Imad Ghazi; Florence Ribeaudeau; Mic 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 119 KB 👁 2 views

Aniridia is an autosomal dominant panocular disorder, characterized by hypoplasia of the iris. It is caused by mutations in the PAX6 gene. This gene encodes a 422-amino acid transcription factor. This protein includes paired and homeo domains, which bind DNA and a proline-serine and threonine-rich P

Mutation of the PAX2 gene in a family wi

Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux

✍ Sanyanusin, Phaikasame; Schimmenti, Lisa A.; McNoe, Leslie A.; Ward, Teresa A.; 📂 Article 📅 1995 🏛 Nature Publishing Group 🌐 English ⚖ 792 KB

Phenotypic variations in patients with a

Phenotypic variations in patients with a 1630 A>T point mutation in the PAX6 gene

✍ De Becker, Inge; Walter, Michael; Noël, Léon-Paul 📂 Article 📅 2004 🏛 Canadian Ophthalmological Society 🌐 English ⚖ 815 KB

Four novel and two previously reported m

Four novel and two previously reported mutations of the PAX6 gene in patients with aniridia

✍ Grady F. Saunders; Lian-Yu Chao 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 161 KB 👁 1 views

A de novo nonsense mutation of PAX6 gene

A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation

✍ Claudio Graziano; Angela V. D'Elia; Laura Mazzanti; Filomena Moscano; Simonetta 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 122 KB 👁 2 views