✦ LIBER ✦

Trp156Ter mutation in the PAX6 gene in a family with aniridia

✍ Scribed by Amanda J. Churchill; Rashida Anwar; Adam P. Booth; Richard Axton; Alex F. Markham

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 109 KB
Volume: 11
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.13801101104

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

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

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 novel PAX6 mutations i

Identification of novel PAX6 mutations in two families with bilateral aniridia

✍ Martin Neuner-Jehle; Francis Munier; Alexandra Kobetz; Iman Sahly; Yves Uteza; A 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 158 KB 👁 2 views

We report two novel PAX6 mutations in aniridia patients of two Swiss pedigrees (We, Sc) which give rise to different phenotypes. An SSCP analysis of the PAX6 14 exons reveals electrophoretic mobility shifts exclusively in exons 5 and 12 of aniridia patients. As determined by bidirectional sequencing

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

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