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Results: 1-8 |
Results: 8
Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acidexchange
Authors: Dvorakova, L Storkanova, G Unterrainer, G Hujova, J Kmoch, S Zeman, J Hrebicek, M Berger, J
Citation: L. Dvorakova et al., Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acidexchange, HUM MUTAT, 18(1), 2001, pp. 52-60
X-ray structure analysis of an mutant of human gamma-D-crystallin: A unique cataract phenotype explained by protein crystallography
Authors: Brynda, J Kmoch, S Awsav, B Bezouska, K Novak, P Rezacova, P Ondrova, L Filipec, M Elleder, M Sedlacek, J
Citation: J. Brynda et al., X-ray structure analysis of an mutant of human gamma-D-crystallin: A unique cataract phenotype explained by protein crystallography, CHEM LISTY, 95(1), 2001, pp. 47-47
Link between a novel human gamma D-crystallin allele and a unique cataractphenotype explained by protein crystallography
Authors: Kmoch, S Brynda, J Asfaw, B Bezouska, K Novak, P Rezacova, P Ondrova, L Filipec, M Sedlacek, J Elleder, M
Citation: S. Kmoch et al., Link between a novel human gamma D-crystallin allele and a unique cataractphenotype explained by protein crystallography, HUM MOL GEN, 9(12), 2000, pp. 1779-1786
Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients
Authors: Kmoch, S Hartmannova, H Stiburkova, B Krijt, J Zikanova, M Sebesta, I
Citation: S. Kmoch et al., Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients, HUM MOL GEN, 9(10), 2000, pp. 1501-1513
Abnormalities in succinylpurines in fumarase deficiency: Possible role in pathogenesis of CNS impairment
Authors: Zeman, J Krijt, J Stratilova, L Hansikova, H Wenchich, L Kmoch, S Chrastina, P Houstek, J
Citation: J. Zeman et al., Abnormalities in succinylpurines in fumarase deficiency: Possible role in pathogenesis of CNS impairment, J INH MET D, 23(4), 2000, pp. 371-374
Familial juvenile hyperuricemic nephropathy: Localization of the gene on chromosome 16p11.2 - and evidence for genetic heterogeneity
Authors: Stiburkova, B Majewski, J Sebesta, I Zhang, WY Ott, J Kmoch, S
Citation: B. Stiburkova et al., Familial juvenile hyperuricemic nephropathy: Localization of the gene on chromosome 16p11.2 - and evidence for genetic heterogeneity, AM J HU GEN, 66(6), 2000, pp. 1989-1994
Identification and determination of succinyladenosine in human cerebrospinal fluid
Authors: Krijt, J Kmoch, S Hartmannova, H Havlicek, V Sebesta, I
Citation: J. Krijt et al., Identification and determination of succinyladenosine in human cerebrospinal fluid, J CHROMAT B, 726(1-2), 1999, pp. 53-58
A novel deficiency of mitochondrial ATPase of nuclear origin
Authors: Houstek, J Klement, P Floryk, D Antonicka, H Hermanska, J Kalous, M Hansikova, H Houst'kova, H Chowdhury, SKR Rosipal, S Kmoch, S Stratilova, L Zeman, J
Citation: J. Houstek et al., A novel deficiency of mitochondrial ATPase of nuclear origin, HUM MOL GEN, 8(11), 1999, pp. 1967-1974
Risultati: 1-8 |