Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes
STIBURKOVA, Blanka, MAJEWSKI, Jacek, MATTHIJS, Gert, FRYNS, Jean-Pierre, TORRES, Rosa, GARCIA PUIG, Juan, OTT, Jurg, KMOCH, Stanislav, HODANOVA, Katerina, ONDROVA, Lenka, JERAHBKOVA, Markéta, ZIKANOVA, Marie, VYLET'AL, Petr, SEBESTA, Ivan, MARINAKI, Anthony, SIMMONDS, Anne
Published in European journal of human genetics : EJHG (01.02.2003)
Published in European journal of human genetics : EJHG (01.02.2003)
Get full text
Journal Article
Link between a novel human [gamma]D-crystallin allele and a unique cataract phenotype explained by protein crystallography
Kmoch, Stanislav, Brynda, Jiri, Befekadu Asfaw, Bezouka, Karel, Novak, Petr, Rezacova, Pavlina, Ondrova, Lenka, Filipec, Martin, Sedlacek, Juraj, Elleder, Milan
Published in Human molecular genetics (22.07.2000)
Get full text
Published in Human molecular genetics (22.07.2000)
Journal Article
Link between a novel human γD-crystallin allele and a unique cataract phenotype explained by protein crystallography
KMOCH, S, BRYNDA, J, ASFAW, B, BEZOUSKA, K, NOVAK, P, REZACOVA, P, ONDROVA, L, FILIPEC, M, SEDLACEK, J, ELLEDER, M
Published in Human molecular genetics (22.07.2000)
Published in Human molecular genetics (22.07.2000)
Get full text
Journal Article