Some new sequence spaces derived by the domain of generalized difference matrix

Different ocular abnormalities in indivi

Different ocular abnormalities in individuals of a three-generation family caused by a new nonsense mutation in the PST domain of the PAX6 gene

✍ Yana Syagailo; Klaus Wilke; Olga Okladnova; Antonin Eigel; Marta Lemmens; Vladim 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 194 KB 👁 2 views

PAX6 is a candidate gene for familial aniridia. We have carried out a mutational analysis of the PAX6 gene in a three-generation family from Germany, containing 5 individuals affected with ocular abnormalities. In all affected individuals, a heterozygous mutation was detected in the PAX6 gene, excha