Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy

Nephronophthisis-related ciliopathies (NPHP-RCs) are a group of inherited diseases that are associated with defects in primary cilium structure and function. To identify genes mutated in NPHP-RC, we performed homozygosity mapping and whole-exome sequencing for >100 individuals, some of whom were...

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Bibliografski detalji
Izdano u:Am J Hum Genet
Glavni autori: Choi, Yo Jun, Halbritter, Jan, Braun, Daniela A., Schueler, Markus, Schapiro, David, Rim, John Hoon, Nandadasa, Sumeda, Choi, Won-il, Widmeier, Eugen, Shril, Shirlee, Körber, Friederike, Sethi, Sidharth K., Lifton, Richard P., Beck, Bodo B., Apte, Suneel S., Gee, Heon Yung, Hildebrandt, Friedhelm
Format: Artigo
Jezik:Inglês
Izdano: Elsevier 2019
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Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6323550/
https://ncbi.nlm.nih.gov/pubmed/30609407
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2018.11.003
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