Zobrazeno 1 - 4
of 4
pro vyhledávání: '"L. Slife"'
Autor:
J. T. Feltis, Hiltrud Brauch, Gladys Glenn, C. Casadevall, McClellan M. Walther, Stefan Storkel, Thomas Stackhouse, Irina A. Lubensky, Ulf S.R. Bergerheim, C. J. M. Lips, Abirami Chidambaram, L. Slife, Peter L. Choyke, Rando Allikmets, B. Zbar, Holger Moch, Stéphane Richard, Lap-Chee Tsui, W.M. Linehan, Laura S. Schmidt, Zhengping Zhuang, Michael Dean, Jochen Decker, J. Lipan, M. Bernues, Fuh Mei Duh, Michael I. Lerman, A. Zamarron, Laura Geil, G. Niehans, Mary Lou Orcutt, Takeshi Kishida, Stephen W. Scherer, M. D. Hughson, F. Chen
Publikováno v:
Nature genetics. 16(1)
Hereditary papillary renal carcinoma (HPRC) is a recently recognized form of inherited kidney cancer characterized by a predisposition to develop multiple, bilateral papillary renal tumours. The pattern of inheritance of HPRC is consistent with autos
A family with von Hippel-Lindau disease (VHL) type 2A has been shown to have a T to C missense mutation at nucleotide 547 of the VHL gene. This gives further support for the proposal to associate the 547 T to C mutation with phenotype VHL 2A.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23ddf460f1b662e87a09d25a9107ebdd
https://europepmc.org/articles/PMC1050712/
https://europepmc.org/articles/PMC1050712/
Akademický článek
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Autor:
Schmidt L; Intramural Research Support Program, SAIC Frederick, MD, USA., Duh FM, Chen F, Kishida T, Glenn G, Choyke P, Scherer SW, Zhuang Z, Lubensky I, Dean M, Allikmets R, Chidambaram A, Bergerheim UR, Feltis JT, Casadevall C, Zamarron A, Bernues M, Richard S, Lips CJ, Walther MM, Tsui LC, Geil L, Orcutt ML, Stackhouse T, Lipan J, Slife L, Brauch H, Decker J, Niehans G, Hughson MD, Moch H, Storkel S, Lerman MI, Linehan WM, Zbar B
Publikováno v:
Nature genetics [Nat Genet] 1997 May; Vol. 16 (1), pp. 68-73.