Titre:
  • Mutations in the human laminin β2 (LAMB2) gene and the associated phenotypic spectrum
Auteur:Matejas, Verena; Hinkes, Bernward; Alkandari, Faisal; Al-Gazali, Lihadh; Annexstad, Ellen; Aytac, Mehmet M.B.; Barrow, Margaret; Bláhová, Květa; Bockenhauer, Detlef; Cheong, Hae Il; Maruniak-Chudek, Iwona; Cochat, Pierre; Dötsch, Jörg; Gajjar, Priya; Hennekam, Raoul; Janssen, Françoise; Kagan, Mikhail; Kariminejad, Ariana; Kemper, Markus M.J.; Koenig, Jens; Kogan, Jillene; Kroes, Hester H.Y.; Kuwertz-Bröking, Eberhard; Lewanda, Amy A.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
Informations sur la publication:Human mutation, 31, 9, page (992-1002)
Statut de publication:Publié, 2010-09
Sujet CREF:Génétique clinique
Biologie
Mots-clés:Autosomal recessive
LAMB2
Laminin
Nephrotic syndrome
Ocular malformation
Pierson syndrome
Podocyte
Note générale:SCOPUS: re.j
FLWIN
Langue:Anglais
Identificateurs:urn:issn:1059-7794
info:doi/10.1002/humu.21304
info:scp/77956293608
info:pmid/20556798