Hypomorphic mutations in meckelin (<i>MKS3/TMEM67</i>) cause nephronophthisis with liver fibrosis (NPHP11)
Edgar A. Otto(University of Michigan), Friedhelm Hildebrandt(Boston Children's Hospital), Weibin Zhou(University of Michigan), Yasaswi Paruchuri(University of Michigan), Moumita Chaki(University of Michigan), Ahmet Nayır(Istanbul University), Gudrun Nürnberg(University of Cologne), Boris Utsch(University of Michigan), Corinne Antignac(Hôpital Necker-Enfants Malades), Massimo Attanasio(Bristol-Myers Squibb (United States)), Peter Nürnberg(University of Cologne), M T F Wolf(The University of Texas Southwestern Medical Center), C. Becker(University of Cologne), Kálmán Tory(Délégation Paris 5), Eric L. Wise(Michigan United), Sophie Saunier(Hôpital Necker-Enfants Malades)
Cited by 129
Related Papers
Ciliopathies
|New England Journal of Medicine|2011|1.4k
Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III
|Nature Genetics|1997|869
A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome
|Journal of the American Society of Nephrology|2014|660
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition
|Nature Genetics|2011|658
Classification of patients with sepsis according to blood genomic endotype: a prospective cohort study
|The Lancet Respiratory Medicine|2017|645