✦ LIBER ✦

Three novel mutations of thePAX6gene in Japanese aniridia patients

✍ Scribed by Toshio Kawano; Chunxia Wang; Yoshihiro Hotta; Miho Sato; Emi Iwata-Amano; Akiko Hikoya; Naoya Fujita; Norihisa Koyama; Shoichiro Shirai; Noriyuki Azuma; Masafumi Ohtsubo; Nobuyoshi Shimizu; Shinsei Minoshima

Publisher: Nature Publishing Group
Year: 2007
Tongue: English
Weight: 206 KB
Volume: 52
Category: Article
ISSN: 1435-232X
DOI: 10.1007/s10038-007-0153-2

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Three novel aniridia mutations in the hu

Three novel aniridia mutations in the human PAX6 gene

✍ Aruna Martha; Louise C. Strong; Robert E. Ferrell; Grady F. Saunders 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 521 KB

Communicated by Sawio L. C. WOO Aniridia (iris hypoplasia) is an autosomal dominant congenital disorder of the eye. Mutations in the human aniridia (PAX61 gene have now been identified in many patients from various ethnic groups. In the study reported here we describe PAX6 mutations in one sporadic

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

Run-on mutation and three novel nonsense

Run-on mutation and three novel nonsense mutations identified in the PAX6 gene in patients with aniridia

✍ Larry Baum; C.P. Pang; Dorothy S.P. Fan; Priscilla M.K. Poon; Y.F. Leung; John K 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 14 KB 👁 2 views

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

Mutation in the PAX6 gene in twenty pati

Mutation in the PAX6 gene in twenty patients with aniridia

✍ Lian-Yu Chao; Vicki Huff; Louise C. Strong; Grady F. Saunders 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 275 KB 👁 2 views

This is a report on the nature of the mutations in the PAX6 gene in twenty patients with aniridia. Five of the twenty patients had sporadic aniridia with deletions in chromosome 11p13. Three of the five had WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies, mental retardation), and the o

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