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Cystic fibrosis patients bearing both the common missense mutation Gly→Asp at codon 551 and the ΔF508 mutation are clinically indistinguishable from ΔF508 homozygotes, except for decreased risk and meconium illeus

HAMOSH, A ; KING, T. M ; MACEK, M. JR ; ZEMBOVA, D ; KRASNICANOVA, H ; VAVROVA, V ; MACEK, M. SR ; GOLDER, N ; SCHWARZ, M. J ; SUPER, M ; WATSON, E. K ; WILLIAMS, C ; ROSENSTEIN, B. J ; BUSH, A ; O'MAHONEY, S. M ; HUMPHRIES, P ; DEARCE, M. A ; REIS, A ; BÜRGER, J ; STUHRMANN, M ; SCHMIDTKE, J ; WULBRAND, U ; DÖRK, T ; COREY, M ; TÜMMLER, B ; CUTTING, G. R ; LEVISION, H ; DURIE, P ; TSUI, L.-C ; MCINTOSH, I ; KESTON, M ; BROCK, D. J. H

American journal of human genetics, 1992, Vol.51 (2), p.245-250 [Periódico revisado por pares]

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Título:
Cystic fibrosis patients bearing both the common missense mutation Gly→Asp at codon 551 and the ΔF508 mutation are clinically indistinguishable from ΔF508 homozygotes, except for decreased risk and meconium illeus
Autor: HAMOSH, A ; KING, T. M ; MACEK, M. JR ; ZEMBOVA, D ; KRASNICANOVA, H ; VAVROVA, V ; MACEK, M. SR ; GOLDER, N ; SCHWARZ, M. J ; SUPER, M ; WATSON, E. K ; WILLIAMS, C ; ROSENSTEIN, B. J ; BUSH, A ; O'MAHONEY, S. M ; HUMPHRIES, P ; DEARCE, M. A ; REIS, A ; BÜRGER, J ; STUHRMANN, M ; SCHMIDTKE, J ; WULBRAND, U ; DÖRK, T ; COREY, M ; TÜMMLER, B ; CUTTING, G. R ; LEVISION, H ; DURIE, P ; TSUI, L.-C ; MCINTOSH, I ; KESTON, M ; BROCK, D. J. H
Assuntos: Biological and medical sciences ; Gastroenterology. Liver. Pancreas. Abdomen ; Liver. Biliary tract. Portal circulation. Exocrine pancreas ; Medical sciences ; Other diseases. Semiology
É parte de: American journal of human genetics, 1992, Vol.51 (2), p.245-250
Editor: Chicago, IL: University of Chicago Press
Idioma: Inglês

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