Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man.

Autor: Bongers, Ernie M. H. F.1 E.Bongers@antrg.umcn.nl, de Wijs, Ilse J.1, Marcelis, Carlo1, Hoefsloot, Lies H.1, Knoers, Nine V. A. M.1
Zdroj: European Journal of Human Genetics. Oct2008, Vol. 16 Issue 10, p1240-1244. 5p. 2 Diagrams, 1 Chart.
Databáze: Academic Search Ultimate