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Results: 1-17 |
Results: 17
ISOLATION OF THE HUMAN BEADED-FILAMENT STRUCTURAL PROTEIN-1 GENE (BFSP1) AND ASSIGNMENT TO CHROMOSOME 20P11.23-P12.1
Authors: RENDTORFF ND HANSEN C SILAHTAROGLU A HENRIKSEN KF TOMMERUP N
Citation: Nd. Rendtorff et al., ISOLATION OF THE HUMAN BEADED-FILAMENT STRUCTURAL PROTEIN-1 GENE (BFSP1) AND ASSIGNMENT TO CHROMOSOME 20P11.23-P12.1, Genomics (San Diego, Calif.), 53(1), 1998, pp. 114-116
ABERRANT PHENYLALANINE METABOLISM IN PHENYLKETONURIA HETEROZYGOTES
Authors: GULDBERG P HENRIKSEN KF LOU HC GUTTLER F
Citation: P. Guldberg et al., ABERRANT PHENYLALANINE METABOLISM IN PHENYLKETONURIA HETEROZYGOTES, Journal of inherited metabolic disease, 21(4), 1998, pp. 365-372
A MOLECULAR SURVEY OF PHENYLKETONURIA IN ICELAND - IDENTIFICATION OF A FOUNDING MUTATION AND EVIDENCE OF PREDOMINANT NORSE SETTLEMENT
Authors: GULDBERG P ZSCHOCKE J DAGBJARTSSON A HENRIKSEN KF GUTTLER F
Citation: P. Guldberg et al., A MOLECULAR SURVEY OF PHENYLKETONURIA IN ICELAND - IDENTIFICATION OF A FOUNDING MUTATION AND EVIDENCE OF PREDOMINANT NORSE SETTLEMENT, European journal of human genetics, 5(6), 1997, pp. 376-381
LARGE DELETIONS IN THE PHENYLALANINE-HYDROXYLASE GENE AS A CAUSE OF PHENYLKETONURIA IN INDIA
Authors: GULDBERG P HENRIKSEN KF MAMMEN KC LEVY HL GUTTLER F
Citation: P. Guldberg et al., LARGE DELETIONS IN THE PHENYLALANINE-HYDROXYLASE GENE AS A CAUSE OF PHENYLKETONURIA IN INDIA, Journal of inherited metabolic disease, 20(6), 1997, pp. 845-846
PHENYLALANINE-HYDROXYLASE DEFICIENCY IN A POPULATION IN GERMANY - MUTATIONAL PROFILE AND 9 NOVEL MUTATIONS
Authors: GULDBERG P MALLMANN R HENRIKSEN KF GUTTLER F
Citation: P. Guldberg et al., PHENYLALANINE-HYDROXYLASE DEFICIENCY IN A POPULATION IN GERMANY - MUTATIONAL PROFILE AND 9 NOVEL MUTATIONS, Human mutation, 8(3), 1996, pp. 276-279
EXPRESSION ANALYSIS OF HUMAN PHENYLALANINE-HYDROXYLASE MUTANTS FOUND IN PHENYLKETONURIA
Authors: GJETTING T HENRIKSEN KF GULDBERG P GUTTLER F
Citation: T. Gjetting et al., EXPRESSION ANALYSIS OF HUMAN PHENYLALANINE-HYDROXYLASE MUTANTS FOUND IN PHENYLKETONURIA, The FASEB journal, 10(6), 1996, pp. 2141-2141
3 PREVALENT MUTATIONS IN A PATIENT WITH PHENYLALANINE-HYDROXYLASE DEFICIENCY - IMPLICATIONS FOR DIAGNOSIS AND GENETIC-COUNSELING
Authors: GULDBERG P LEVY HL HENRIKSEN KF GUTTLER F
Citation: P. Guldberg et al., 3 PREVALENT MUTATIONS IN A PATIENT WITH PHENYLALANINE-HYDROXYLASE DEFICIENCY - IMPLICATIONS FOR DIAGNOSIS AND GENETIC-COUNSELING, Journal of Medical Genetics, 33(2), 1996, pp. 161-164
PHENYLALANINE-HYDROXYLASE GENE-MUTATIONS IN THE UNITED-STATES - REPORT FROM THE MATERNAL PKU COLLABORATIVE STUDY
Authors: GULDBERG P LEVY HL HANLEY WB KOCH R MATALON R ROUSE BM TREFZ F DELACRUZ F HENRIKSEN KF GUTTLER F
Citation: P. Guldberg et al., PHENYLALANINE-HYDROXYLASE GENE-MUTATIONS IN THE UNITED-STATES - REPORT FROM THE MATERNAL PKU COLLABORATIVE STUDY, American journal of human genetics, 59(1), 1996, pp. 84-94
IN-VIVO ASSESSMENT OF MUTATIONS IN THE PHENYLALANINE-HYDROXYLASE GENEBY PHENYLALANINE LOADING - CHARACTERIZATION OF 7 COMMON MUTATIONS
Authors: GULDBERG P MIKKELSEN I HENRIKSEN KF LOU HC GUTTLER F
Citation: P. Guldberg et al., IN-VIVO ASSESSMENT OF MUTATIONS IN THE PHENYLALANINE-HYDROXYLASE GENEBY PHENYLALANINE LOADING - CHARACTERIZATION OF 7 COMMON MUTATIONS, European journal of pediatrics, 154(7), 1995, pp. 551-556
PHENYLKETONURIA IN A LOW INCIDENCE POPULATION - MOLECULAR CHARACTERIZATION OF MUTATIONS IN FINLAND
Authors: GULDBERG P HENRIKSEN KF SIPILA I GUTTLER F DELACHAPELLE A
Citation: P. Guldberg et al., PHENYLKETONURIA IN A LOW INCIDENCE POPULATION - MOLECULAR CHARACTERIZATION OF MUTATIONS IN FINLAND, Journal of Medical Genetics, 32(12), 1995, pp. 976-978
MOLECULAR HETEROGENEITY OF NONPHENYLKETONURIA HYPERPHENYLALANINEMIA IN 25 DANISH PATIENTS
Authors: GULDBERG P HENRIKSEN KF THONY B BLAU N GUTTLER F
Citation: P. Guldberg et al., MOLECULAR HETEROGENEITY OF NONPHENYLKETONURIA HYPERPHENYLALANINEMIA IN 25 DANISH PATIENTS, Genomics, 21(2), 1994, pp. 453-455
CONSTANT DENATURANT GEL-ELECTROPHORESIS WITHOUT FORMAMIDE
Authors: GULDBERG P HENRIKSEN KF GUTTLER F
Citation: P. Guldberg et al., CONSTANT DENATURANT GEL-ELECTROPHORESIS WITHOUT FORMAMIDE, BioTechniques, 16(5), 1994, pp. 786
MUTATION ANALYSIS IN FAMILIES WITH DISCORDANT PHENOTYPES OF PHENYLALANINE-HYDROXYLASE DEFICIENCY - INHERITANCE AND EXPRESSION OF THE HYPERPHENYLALANINAEMIAS
Authors: GULDBERG P LEVY HL KOCH R BERLIN CM FRANCOIS B HENRIKSEN KF GUTTLER F
Citation: P. Guldberg et al., MUTATION ANALYSIS IN FAMILIES WITH DISCORDANT PHENOTYPES OF PHENYLALANINE-HYDROXYLASE DEFICIENCY - INHERITANCE AND EXPRESSION OF THE HYPERPHENYLALANINAEMIAS, Journal of inherited metabolic disease, 17(6), 1994, pp. 645-651
A NOVEL MISSENSE MUTATION IN THE PHENYLALANINE-HYDROXYLASE GENE OF A HOMOZYGOUS PAKISTANI PATIENT WITH NON-PKU HYPERPHENYLALANINEMIA
Authors: GULDBERG P LOU HC HENRIKSEN KF MIKKELSEN I OLSEN B HOLCK B GUTTLER F
Citation: P. Guldberg et al., A NOVEL MISSENSE MUTATION IN THE PHENYLALANINE-HYDROXYLASE GENE OF A HOMOZYGOUS PAKISTANI PATIENT WITH NON-PKU HYPERPHENYLALANINEMIA, Human molecular genetics, 2(7), 1993, pp. 1061-1062
MUTATIONAL SPECTRUM OF PHENYLALANINE-HYDROXYLASE DEFICIENCY IN SICILY- IMPLICATIONS FOR DIAGNOSIS OF HYPERPHENYL-ALANINEMIA IN SOUTHERN EUROPE
Authors: GULDBERG P ROMANO V CERATTO N BOSCO P CIUNA M INDELICATO A MOLLICA F MELI C GIOVANNINI M RIVA E BIASUCCI G HENRIKSEN KF GUTTLER F
Citation: P. Guldberg et al., MUTATIONAL SPECTRUM OF PHENYLALANINE-HYDROXYLASE DEFICIENCY IN SICILY- IMPLICATIONS FOR DIAGNOSIS OF HYPERPHENYL-ALANINEMIA IN SOUTHERN EUROPE, Human molecular genetics, 2(10), 1993, pp. 1703-1707
MOLECULAR ANALYSIS OF PHENYLKETONURIA IN DENMARK - 99-PERCENT OF THE MUTATIONS DETECTED BY DENATURING GRADIENT GEL-ELECTROPHORESIS
Authors: GULDBERG P HENRIKSEN KF GUTTLER F
Citation: P. Guldberg et al., MOLECULAR ANALYSIS OF PHENYLKETONURIA IN DENMARK - 99-PERCENT OF THE MUTATIONS DETECTED BY DENATURING GRADIENT GEL-ELECTROPHORESIS, Genomics, 17(1), 1993, pp. 141-146
MOLECULAR-BASIS FOR THE PHENOTYPICAL DIVERSITY OF PHENYLKETONURIA ANDRELATED HYPERPHENYLALANINAEMIAS
Authors: GUTTLER F GULDBERG P HENRIKSEN KF MIKKELSEN I OLSEN B LOU H
Citation: F. Guttler et al., MOLECULAR-BASIS FOR THE PHENOTYPICAL DIVERSITY OF PHENYLKETONURIA ANDRELATED HYPERPHENYLALANINAEMIAS, Journal of inherited metabolic disease, 16(3), 1993, pp. 602-604
Risultati: 1-17 |