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D. S. Konecki

Veröffentlichungen von D. S. Konecki zu Konecki, D. S. ->
weitere Veröffentlichungen von D. S. Konecki:
Facilitation of hyperphenylalaninaemia phenotype assessment by genotype analysis (1993)
Geographical distribution of the P281L mutation at the phenylalanine hydroxylase locus: possible origin in southeastern Europe (1994)
Direct detection of a major mutation responsible for phenylketonuria in the population of the Federal Republic of Germany (1989)
The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuria (1991)
Relation between phenylalanine hydroxylase genotypes and phenotypic parameters of diagnosis and treatment of hyperphenylalaninaemic disorders (1994)
Phenylalanine hydroxylase genotypes, predicted residual enzyme activity and phenotypic parameters of diagnosis and treatment of phenylketonuria (1996)
Complete cDNA Sequence of Human Lysosome-Associated Membrane Protein-2 (1994)
Evolutionary conservation and genomic organization of XAP-4, an Xq28 located gene coding for a human rab GDP-dissociation inhibitor (GDI) (1994)
Molecular characterization of PKU allele prevalent in southern Europe and Ireland (1991)
Allelic association of the cystic fibrosis locus and two DNA markers, XV2c and KM19, in 55 German families (1988)
Methylmalonic acidaemia: haplotype analysis of the methylmalonyl-CoA-mutase gene in Europe (1994)
Haplotype analysis and a newMspl-polymorphism at the phenylalanine hydroxylase gene in the Arabian population (1994)
Veröffentlichungen zu Konecki, D. S.
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1 		Konecki, D. S., Schweitzer-Krantz, S., ... Facilitation of hyperphenylalaninaemia phenotype assessment by genotype analysis
in: European journal of pediatrics , ISSN 1432-1076, Vol. 152 (12. 1993), p. 1048-1049
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ähnliche Vorschläge 		1993
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2 		Barić, I., Mardešić, D., ... Geographical distribution of the P281L mutation at the phenylalanine hydroxylase locus: possible origin in southeastern Europe
in: Journal of inherited metabolic disease , ISSN 1573-2665, ZDB-ID 2006875X Vol. 17 (3. 1994), p. 376-377
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ähnliche Vorschläge 		1994
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3 		Lichter-Konecki, U., schlotter, M., ... Direct detection of a major mutation responsible for phenylketonuria in the population of the Federal Republic of Germany
in: European journal of pediatrics , ISSN 1432-1076, Vol. 149 (2. 1989), p. 120-123
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ähnliche Vorschläge 		1989
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4 		Konecki, D. S., Schlotter, M., ... The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuria
in: Human genetics , ISSN 1432-1203, Vol. 87 (4. 1991), p. 389-393
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ähnliche Vorschläge 		1991
Summary DNA sequence analysis of the 13 exons and intron/exon boundaries of the phenylalanine hydroxylase (PAH) gene has detected two base transitions, resulting in mis-sense mutations, in the genomic DNA of a Turkish patient (E1) with phenylketonuria (PKU). The Leu48→Ser amino acid... mehr
Copyright: Copyright 1991 Springer-Verlag mehr
beteiligte Personen: Konecki, D. S. , Schlotter, M. , Trefz, F. K. , Lichter-Konecki, U.
Erschienen: 1991.
Serie: Springer Online Journal Archives 1860-2000 [Dig. Serial]
Schlagwörter:
URL: http://dx.doi.org/10.1007/BF00197153
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5 		Lichter-Konecki, U., Rupp, A., ... Relation between phenylalanine hydroxylase genotypes and phenotypic parameters of diagnosis and treatment of hyperphenylalaninaemic disorders
in: Journal of inherited metabolic disease , ISSN 1573-2665, ZDB-ID 2006875X Vol. 17 (3. 1994), p. 362-365
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ähnliche Vorschläge 		1994
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6 		Burgard, P., Rupp, A., ... Phenylalanine hydroxylase genotypes, predicted residual enzyme activity and phenotypic parameters of diagnosis and treatment of phenylketonuria
in: European journal of pediatrics , ISSN 1432-1076, Vol. 155 (1. 1996), p. S11
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ähnliche Vorschläge 		1996
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7 		Konecki, D.S., Foetisch, K., ... Complete cDNA Sequence of Human Lysosome-Associated Membrane Protein-2
in: Biochemical and Biophysical Research Communications, in: Biochemical and Biophysical Research Communications . - Amsterdam : Elsevier, ISSN 0006-291X, ZDB-ID 1461396-7 Vol. 205, No. 1 (1994), p. 1-5
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ähnliche Vorschläge 		1994
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8 		Sedlacek, Z., Konecki, D. S., ... Evolutionary conservation and genomic organization of XAP-4, an Xq28 located gene coding for a human rab GDP-dissociation inhibitor (GDI)
in: Mammalian genome , ISSN 1432-1777, Vol. 5 (10. 1994), p. 633-639
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ähnliche Vorschläge 		1994
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9 		Dasovich, M., Konecki, D., ... Molecular characterization of PKU allele prevalent in southern Europe and Ireland
in: Somatic cell and molecular genetics , ISSN 1572-9931, Vol. 17 (3. 1991), p. 303-309
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ähnliche Vorschläge 		1991
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10 		Krawczak, M., Konecki, D. S., ... Allelic association of the cystic fibrosis locus and two DNA markers, XV2c and KM19, in 55 German families
in: Human genetics , ISSN 1432-1203, Vol. 80 (1. 1988), p. 78-80
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ähnliche Vorschläge 		1988
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11 		Bender, C., Büchler, A., ... Methylmalonic acidaemia: haplotype analysis of the methylmalonyl-CoA-mutase gene in Europe
in: European journal of pediatrics , ISSN 1432-1076, Vol. 153 (6. 1994), p. 468-468
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ähnliche Vorschläge 		1994
Copyright: Copyright 1994 Springer-Verlag mehr
beteiligte Personen: Bender, C. , Büchler, A. , Baumgartner, R. , Konecki, D. S. , Trefz, F. K.
Erschienen: 1994.
Serie: Springer Online Journal Archives 1860-2000 [Dig. Serial]
Schlagwörter:
URL: http://dx.doi.org/10.1007/BF01983416
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12 		Bender, C., Büchler, A., ... Haplotype analysis and a newMspl-polymorphism at the phenylalanine hydroxylase gene in the Arabian population
in: European journal of pediatrics , ISSN 1432-1076, Vol. 153 (5. 1994), p. 392-392
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ähnliche Vorschläge 		1994