A novel nonsense mutation in NPHS1: is aortic stenosis associated with congenital nephropathy?

L. A.R.A. GHARIBEH, I. N.A.A.M. EL-RASSY, Ayman Soubra, R. A.Y.A. SAFA, A. K.L. FAHED, R. A.C.H.E.L. TANOS, M. A.R.I.A.M. ARABI, Z. A.K.A.R.I.A. KAMBRIS, F. A.D.I. BITAR, G. E.O.R.G.E.S. NEMER

Research output: Contribution to journalArticle

Original languageEnglish (US)
Pages (from-to)309-312
Number of pages4
JournalJournal of Genetics
Volume94
Issue number2
DOIs
StatePublished - Jun 27 2015

Keywords

  • NPHS1
  • aortic
  • congenital
  • stenosis

Cite this

GHARIBEH, L. A. R. A., EL-RASSY, I. N. A. A. M., Soubra, A., SAFA, R. A. Y. A., FAHED, A. K. L., TANOS, R. A. C. H. E. L., ARABI, M. A. R. I. A. M., KAMBRIS, Z. A. K. A. R. I. A., BITAR, F. A. D. I., & NEMER, G. E. O. R. G. E. S. (2015). A novel nonsense mutation in NPHS1: is aortic stenosis associated with congenital nephropathy? Journal of Genetics, 94(2), 309-312. https://doi.org/10.1007/s12041-015-0514-0