MOLECULAR HETEROGENEITY OF NONPHENYLKETONURIA HYPERPHENYLALANINEMIA IN 25 DANISH PATIENTS

被引:31
作者
GULDBERG, P
HENRIKSEN, KF
THONY, B
BLAU, N
GUTTLER, F
机构
[1] JOHN F KENNEDY INST, DANISH CTR HUMAN GENOME RES, DK-2600 GLOSTRUP, DENMARK
[2] UNIV ZURICH, DEPT PEDIAT, DIV CLIN CHEM, CH-8032 ZURICH, SWITZERLAND
关键词
D O I
10.1006/geno.1994.1296
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
[No abstract available]
引用
收藏
页码:453 / 455
页数:3
相关论文
共 11 条
  • [1] ILLEGITIMATE TRANSCRIPTION OF THE PHENYLALANINE-HYDROXYLASE GENE IN LYMPHOCYTES FOR IDENTIFICATION OF MUTATIONS IN PHENYLKETONURIA
    ABADIE, V
    JARUZELSKA, J
    LYONNET, S
    MILLASSEAU, P
    BERTHELON, M
    REY, F
    MUNNICH, A
    REY, J
    [J]. HUMAN MOLECULAR GENETICS, 1993, 2 (01) : 31 - 34
  • [2] BLAU N, 1993, PTERIDINES, V4, P1
  • [3] MOLECULAR-BASIS FOR NONPHENYLKETONURIA HYPERPHENYLALANINEMIA
    ECONOMOUPETERSEN, E
    HENRIKSEN, KF
    GULDBERG, P
    GUTTLER, F
    [J]. GENOMICS, 1992, 14 (01) : 1 - 5
  • [4] MOLECULAR ANALYSIS OF PHENYLKETONURIA IN DENMARK - 99-PERCENT OF THE MUTATIONS DETECTED BY DENATURING GRADIENT GEL-ELECTROPHORESIS
    GULDBERG, P
    HENRIKSEN, KF
    GUTTLER, F
    [J]. GENOMICS, 1993, 17 (01) : 141 - 146
  • [5] MUTATIONAL SPECTRUM OF PHENYLALANINE-HYDROXYLASE DEFICIENCY IN SICILY - IMPLICATIONS FOR DIAGNOSIS OF HYPERPHENYL-ALANINEMIA IN SOUTHERN EUROPE
    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
    [J]. HUMAN MOLECULAR GENETICS, 1993, 2 (10) : 1703 - 1707
  • [6] GUTTLER F, 1980, ACTA PAEDIATR SCAND, P1
  • [7] MYERS RM, 1987, METHOD ENZYMOL, V155, P501
  • [8] MOLECULAR-BASIS OF PHENOTYPIC HETEROGENEITY IN PHENYLKETONURIA
    OKANO, Y
    EISENSMITH, RC
    GUTTLER, F
    LICHTERKONECKI, U
    KONECKI, DS
    TREFZ, FK
    DASOVICH, M
    WANG, T
    HENRIKSEN, K
    LOU, H
    WOO, SLC
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1991, 324 (18) : 1232 - 1238
  • [9] SCRIVER CR, 1989, METABOLIC BASIS INHE, P495
  • [10] RNA SPLICE JUNCTIONS OF DIFFERENT CLASSES OF EUKARYOTES - SEQUENCE STATISTICS AND FUNCTIONAL IMPLICATIONS IN GENE-EXPRESSION
    SHAPIRO, MB
    SENAPATHY, P
    [J]. NUCLEIC ACIDS RESEARCH, 1987, 15 (17) : 7155 - 7174