Mutations in the human laminin β2 (LAMB2) gene and the associated phenotypic spectruma

Author:

Matejas Verena,Hinkes Bernward,Alkandari Faisal,Al-Gazali Lihadh,Annexstad Ellen,Aytac Mehmet B.,Barrow Margaret,Bláhová Květa,Bockenhauer Detlef,Cheong Hae Il,Maruniak-Chudek Iwona,Cochat Pierre,Dötsch Jörg,Gajjar Priya,Hennekam Raoul C.,Janssen Françoise,Kagan Mikhail,Kariminejad Ariana,Kemper Markus J.,Koenig Jens,Kogan Jillene,Kroes Hester Y.,Kuwertz-Bröking Eberhard,Lewanda Amy F.,Medeira Ana,Muscheites Jutta,Niaudet Patrick,Pierson Michel,Saggar Anand,Seaver Laurie,Suri Mohnish,Tsygin Alexey,Wühl Elke,Zurowska Aleksandra,Uebe Steffen,Hildebrandt Friedhelm,Antignac Corinne,Zenker Martin

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference33 articles.

1. Drug-induced readthrough of premature stop codons leads to the stabilization of laminin alpha2 chain mRNA in CMD myotubes;Allamand;J Gene Med,2008

2. Ophthalmological aspects of Pierson syndrome;Bredrup;Am J Ophthalmol,2008

3. Proteinuria in mice expressing a mutant laminin 2 chain (R246Q) in podocytes stems in part from impaired laminin secretion;Chen;J Am Soc Nephrol,2008

4. Variable phenotype of Pierson syndrome;Choi;Pediatr Nephrol,2008

5. Laminin polymerization induces a receptor-cytoskeleton network;Colognato;J Cell Biol,1999

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