✦ LIBER ✦

Absence of PAX6 Gene Mutations in Gillespie Syndrome (Partial Aniridia, Cerebellar Ataxia, and Mental Retardation)

✍ Scribed by Tom Glaser; Carl C.T. Ton; Robert Mueller; Maria Luiza Petzl-Erler; Christina Oliver; N.C. Nevin; David E. Housman; Richard L. Maas

Book ID: 115611892
Publisher: Elsevier Science
Year: 1994
Tongue: English
Weight: 257 KB
Volume: 19
Category: Article
ISSN: 0888-7543
DOI: 10.1006/geno.1994.1024

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Syndrome of partial aniridia, cerebellar

Syndrome of partial aniridia, cerebellar ataxia, and mental retardation—Gillespie syndrome

✍ Nevin, N. C. ;Lim, J. H. K. 📂 Article 📅 1990 🏛 John Wiley and Sons 🌐 English ⚖ 223 KB 👁 1 views

Partial aniridia, cerebellar ataxia, and

Partial aniridia, cerebellar ataxia, and mental deficiency (gillespie syndrome) in two brothers

✍ Wittig, Ehrenfried O. ;Moreira, Carlos A. ;Freire-Maia, Newton ;Vianna-Morgante, 📂 Article 📅 1988 🏛 John Wiley and Sons 🌐 English ⚖ 343 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