Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Characterization of mutations causing Alport's syndrome"'
Publikováno v:
Human Mutation, 9, 477-499
Human Mutation, 9, pp. 477-499
Human Mutation, 9, 6, pp. 477-499
Human Mutation, 9, pp. 477-499
Human Mutation, 9, 6, pp. 477-499
Contains fulltext : 25010___.PDF (Publisher’s version ) (Open Access)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::a7f9963e06e91f7bc6ad817f418fd227
https://hdl.handle.net/2066/25010
https://hdl.handle.net/2066/25010
Autor:
Jefferson, J.A., Lemmink, H.H., Hughes, A.E., Hill, C.M., Smeets, H.J.M., Doherty, C.C., Maxwell, A.P.
Publikováno v:
Nephrology, Dialysis, Transplantation, 1595-1599
STARTPAGE=1595;ENDPAGE=1599;ISSN=0931-0509;TITLE=Nephrology, Dialysis, Transplantation
Nephrology, Dialysis, Transplantation
Nephrology, Dialysis, Transplantation, 12, pp. 1595-1599
STARTPAGE=1595;ENDPAGE=1599;ISSN=0931-0509;TITLE=Nephrology, Dialysis, Transplantation
Nephrology, Dialysis, Transplantation
Nephrology, Dialysis, Transplantation, 12, pp. 1595-1599
Item does not contain fulltext 5 p.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::04175fc01a72bacb5aa37a83391f2bf1
http://hdl.handle.net/2066/157049
http://hdl.handle.net/2066/157049
Autor:
Cornelis H. Schröder, Hubert J.M. Smeets, Henny H. Lemmink, T Mochizuki, Leo A. H. Monnens, B.A. van Oost, H.G. Brunner, W. N. Nillesen
Publikováno v:
Journal of Clinical Investigation, 98, 1114-1118
Journal of Clinical Investigation, 98, pp. 1114-1118
Journal of Clinical Investigation, 98, 5, pp. 1114-1118
Journal of Clinical Investigation, 98, pp. 1114-1118
Journal of Clinical Investigation, 98, 5, pp. 1114-1118
Benign familial hematuria (BFH) is characterized by autosomal dominant inheritance, thinning of the glomerular basement membrane (GBM) and normal renal function. It is frequent in patients with persistent microscopic hematuria, but cannot be clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95e1b00bcefb9ad764adda2caaa1028a
http://hdl.handle.net/2066/149505
http://hdl.handle.net/2066/149505
Autor:
L.P.W.J. van den Heuvel, Karl Tryggvason, Pierre Dehan, Jean-Michel Foidart, Hubert J.M. Smeets
Publikováno v:
Nephrology, Dialysis, Transplantation, 11, 1983-1988. Oxford univ press united kingdom
Nephrology, Dialysis, Transplantation, 11, pp. 1983-1988
Nephrology, Dialysis, Transplantation, 11, 1983-1988
Nephrology, Dialysis, Transplantation, 11, 10, pp. 1983-1988
Nephrology, Dialysis, Transplantation, 11, pp. 1983-1988
Nephrology, Dialysis, Transplantation, 11, 1983-1988
Nephrology, Dialysis, Transplantation, 11, 10, pp. 1983-1988
X-linked Alport syndrome (AS) is a heritable disorder which is associated with mutations in the type IV collagen alpha 5 (IV) chain gene (COL4A5) located on chromosome X. Following renal transplantation, an average of 6% of male AS patients develop a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e00983f3464400278d728860c7a5c94e
http://hdl.handle.net/2066/29156
http://hdl.handle.net/2066/29156