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Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes

BACKGROUND: In chicken, loss of TALPID3 results in non-functional cilia and short-rib polydactyly syndrome. This phenotype is caused by a frameshift mutation in the chicken ortholog of the human KIAA0586 gene, which encodes a novel coiled-coil domain protein essential for primary ciliogenesis, sugge...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:J Med Genet
Κύριοι συγγραφείς: Malicdan, May Christine V, Vilboux, Thierry, Stephen, Joshi, Maglic, Dino, Mian, Luhe, Konzman, Daniel, Guo, Jennifer, Yildirimli, Deniz, Bryant, Joy, Fischer, Roxanne, Zein, Wadih M, Snow, Joseph, Vemulapalli, Meghana, Mullikin, James C, Toro, Camilo, Solomon, Benjamin D, Niederhuber, John E, Gahl, William A, Gunay-Aygun, Meral
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: 2015
Θέματα:
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5517294/
https://ncbi.nlm.nih.gov/pubmed/26386044
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2015-103316
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