Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of Renal-Coloboma syndrome.

Autor: Schimmenti, Lisa A., Shim, Heather H., Wirtschafter, Jonathan D., Panzarino, Valerie A., Kashtan, Clifford E., Kirkpatrick, Susan J., Wargowski, David S., France, Thomas D., Michel, Eduard, Dobyns, William B.
Zdroj: Human Mutation; Nov1999, Vol. 14 Issue 5, p369-376, 8p
Databáze: Complementary Index