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; A. Y.M.A.N. 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

doi:10.1007/s12041-015-0514-0

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
, A. Y.M.A.N. 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

^*Corresponding author for this work

American University of Beirut

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	309-312
Number of pages	4
Journal	Journal of Genetics
Volume	94
Issue number	2
DOIs	https://doi.org/10.1007/s12041-015-0514-0
Publication status	Published - 27 Jun 2015
Externally published	Yes

Keywords

NPHS1
aortic
congenital
stenosis

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GHARIBEH, L. A. R. A., EL-RASSY, I. N. A. A. M., SOUBRA, A. Y. M. A. N., 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

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title = "A novel nonsense mutation in NPHS1: is aortic stenosis associated with congenital nephropathy?",

keywords = "NPHS1, aortic, congenital, stenosis",

author = "GHARIBEH, \{L. A.R.A.\} and EL-RASSY, \{I. N.A.A.M.\} and SOUBRA, \{A. Y.M.A.N.\} and SAFA, \{R. A.Y.A.\} and FAHED, \{A. K.L.\} and TANOS, \{R. A.C.H.E.L.\} and ARABI, \{M. A.R.I.A.M.\} and KAMBRIS, \{Z. A.K.A.R.I.A.\} and BITAR, \{F. A.D.I.\} and NEMER, \{G. E.O.R.G.E.S.\}",

year = "2015",

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doi = "10.1007/s12041-015-0514-0",

language = "English",

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T1 - A novel nonsense mutation in NPHS1

T2 - is aortic stenosis associated with congenital nephropathy?

AU - GHARIBEH, L. A.R.A.

AU - EL-RASSY, I. N.A.A.M.

AU - SOUBRA, A. Y.M.A.N.

AU - SAFA, R. A.Y.A.

AU - FAHED, A. K.L.

AU - TANOS, R. A.C.H.E.L.

AU - ARABI, M. A.R.I.A.M.

AU - KAMBRIS, Z. A.K.A.R.I.A.

AU - BITAR, F. A.D.I.

AU - NEMER, G. E.O.R.G.E.S.

PY - 2015/6/27

Y1 - 2015/6/27

KW - NPHS1

KW - aortic

KW - congenital

KW - stenosis

UR - https://www.scopus.com/pages/publications/84938974208

U2 - 10.1007/s12041-015-0514-0

DO - 10.1007/s12041-015-0514-0

M3 - Article

C2 - 26174680

AN - SCOPUS:84938974208

SN - 0022-1333

VL - 94

SP - 309

EP - 312

JO - Journal of Genetics

JF - Journal of Genetics

IS - 2

ER -

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

Keywords

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