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...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: 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
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: BMJ Group 2007
Θέματα:
Letter to JMG
Διαθέσιμο Online: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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