Article
Dosage effect of zero to three functional LBR-genes in vivo and in vitro.
Nucleus (Austin, Tex.) - 1 Jan 2000
Gravemann Sophia, Schnipper Nele, Meyer Hannes, Vaya Amparo, Nowaczyk Malgorzata Jm, Rajab Anna, Hofmann Wolf-Karsten, Salewsky Bastian, Tönnies Holger, Neitzel Heidemarie, Stassen Hans H, Sperling Karl, Hoffmann Katrin
Abstract excerpt
The Lamin B receptor (LBR) is a pivotal architectural protein in the nuclear envelope. Mutations in the Lamin B receptor lead to nuclear hyposegmentation (Pelger-Huët anomaly). We have exactly quantified the nuclear lobulation in neutrophils from individuals with 0, 1, 2 and 3 functional copies of the lamin B receptor gene and analyzed the effect of different mutation types. Our data demonstrate that there is a...
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