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Items: 7

Select item 28300051.

Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria

Thierry Vilboux, Michael Kayser, Wendy Introne, Pim Suwannarat, Isa Bernardini, Roxanne Fischer, Kevin O’Brien, Robert Kleta, Marjan Huizing, William A. Gahl

Hum Mutat. Author manuscript; available in PMC 2010 Dec 1.

Published in final edited form as: Hum Mutat. 2009 Dec; 30(12): 1611–1619. doi: 10.1002/humu.21120

PMCID:: PMC2830005

Abstract Article PDF–572K

Select item 19320652.

Studies of Alcaptonuria: Inheritance of 47 Cases in Eight Highly Inter-related Dominican Kindreds

Robert Austin Milch

Am J Hum Genet. 1960 Mar; 12(1): 76–85.

PMCID:: PMC1932065

Summary Page Browse PDF–952K

Select item 19319383.

Sir Archibald Garrod's “Inborn Errors of Metabolism”. II. Alkaptonuria

W. Eugene Knox

Am J Hum Genet. 1958 Jun; 10(2): 95–124.

PMCID:: PMC1931938

Summary Page Browse PDF–3.4M

Select item 17346404.

Novel mutations in the homogentisate- 1,2-dioxygenase gene identified in Slovak patients with alkaptonuria

A ZATKOVA, H POLAKOVA, L MICUTKOVA, M ZVARIK, V BOSAK, E FERAKOVA, J MATUSEK, V FERAK, L KADASI

J Med Genet. 2000 Jul; 37(7): 539–542. doi: 10.1136/jmg.37.7.539

PMCID:: PMC1734640

Summary PDF–335K

Select item 17342735.

Mutational analysis of the HGO gene in Finnish alkaptonuria patients

D. B.-V. de Bernabe, P. Peterson, K. Luopajarvi, P. Matintalo, A. Alho, Y. Konttinen, K. Krohn, S. R. de Cordoba, A. Ranki

J Med Genet. 1999 Dec; 36(12): 922–923.

PMCID:: PMC1734273

Summary PDF–57K

Select item 13770486.

Are we ready to try to cure alkaptonuria?

B N La Du, Jr

Am J Hum Genet. 1998 Apr; 62(4): 765–767. doi: 10.1086/301810

PMCID:: PMC1377048

Summary PDF–122K

Select item 13770447.

Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients.

D Beltrán-Valero de Bernabé, B Granadino, I Chiarelli, B Porfirio, E Mayatepek, R Aquaron, M M Moore, J J Festen, R Sanmartí, M A Peñalva, S R de Córdoba

Am J Hum Genet. 1998 Apr; 62(4): 776–784. doi: 10.1086/301805