Expanding CEP290 mutational spectrum in ciliopathies

Ciliopathies are an expanding group of rare conditions characterised by multiorgan involvement, that are caused by mutations in genes encoding for proteins of the primary cilium or its apparatus. Among these genes, CEP290 bears an intriguing allelic spectrum, being commonly mutated in Joubert syndro...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Am J Med Genet A
मुख्य लेखकों: Travaglini, Lorena, Brancati, Francesco, Attie-Bitach, Tania, Audollent, Sophie, Bertini, Enrico, Kaplan, Josseline, Perrault, Isabelle, Iannicelli, Miriam, Mancuso, Brunella, Rigoli, Luciana, Rozet, Jean-Michel, Swistun, Dominika, Tolentino, Jerlyn, Dallapiccola, Bruno, Gleeson, Joseph G., Valente, Enza Maria
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: 2009
विषय:
Article
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC4340070/
https://ncbi.nlm.nih.gov/pubmed/19764032
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33025
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