Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior–Løken syndrome

BACKGROUND: Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease that constitutes the most common genetic cause of renal failure in the first three decades of life. Using positional cloning, six genes (NPHP1‐6) have been identified as mutated in NPHP. In Joubert syndrome (JBTS), N...

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Detalhes bibliográficos
Main Authors: Helou, Juliana, Otto, Edgar A, Attanasio, Massimo, Allen, Susan J, Parisi, Melissa A, Glass, Ian, Utsch, Boris, Hashmi, Seema, Fazzi, Elisa, Omran, Heymut, O'Toole, John F, Sayer, John A, Hildebrandt, Friedhelm
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2007
Assuntos:
Letter to JMG
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2597962/
https://ncbi.nlm.nih.gov/pubmed/17617513
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2007.052027
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