NOVEL FRAME-SHIFT DELETIONS OF THE PHENYLALANINE-HYDROXYLASE GENE IN PHENYLKETONURIA

被引：5
|
作者：
BENIT, P
REY, F
MELLE, D
MUNNICH, A
REY, J
机构：
[1] HOP NECKER ENFANTS MALAD,DEPT PEDIAT,F-75743 PARIS 15,FRANCE
[2] HOP NECKER ENFANTS MALAD,UNITE RECH HANDICAPS GENET,INSERM,U393,F-75743 PARIS 15,FRANCE
来源：
HUMAN MOLECULAR GENETICS | 1994年 / 3卷 / 04期
关键词：
D O I：
10.1093/hmg/3.4.675
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
引用
收藏
页码：675 / 676
页数：2
相关论文
共 50 条
  • [41] RECURRENT MUTATION IN THE HUMAN PHENYLALANINE-HYDROXYLASE GENE
    OKANO, Y
    WANG, T
    EISENSMITH, RC
    GUTTLER, F
    WOO, SLC
    AMERICAN JOURNAL OF HUMAN GENETICS, 1990, 46 (05) : 919 - 924
  • [42] CATALOG OF MUTATIONS OF THE PHENYLALANINE-HYDROXYLASE GENE LOCUS
    REY, F
    REY, J
    ARCHIVES FRANCAISES DE PEDIATRIE, 1992, 49 (01): : 63 - 65
  • [43] POLYMORPHIC DNA HAPLOTYPES AT THE HUMAN PHENYLALANINE-HYDROXYLASE LOCUS AND THEIR RELATIONSHIP WITH PHENYLKETONURIA
    CHAKRABORTY, R
    LIDSKY, AS
    DAIGER, SP
    GUTTLER, F
    SULLIVAN, S
    DILELLA, AG
    WOO, SLC
    HUMAN GENETICS, 1987, 76 (01) : 40 - 46
  • [44] MUTATIONS AND POLYMORPHISMS IN THE PHENYLALANINE-HYDROXYLASE GENE IN CHILE
    PEREZ, B
    DESVIAT, LR
    DELUCCA, M
    CORNEJO, V
    UGARTE, M
    AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 971 - 971
  • [45] RFLPS OF THE PHENYLALANINE-HYDROXYLASE GENE IN THE ITALIAN POPULATION
    DIANZANI, I
    FARINASSO, L
    FORTINA, P
    CAMASCHELLA, C
    PONZONE, R
    DAHL, HHM
    COTTON, RGH
    PONZONE, A
    JOURNAL OF INHERITED METABOLIC DISEASE, 1989, 12 (02) : 162 - 165
  • [46] MUTATIONS IN THE PHENYLALANINE-HYDROXYLASE GENE - METHODS FOR THEIR CHARACTERIZATION
    GULDBERG, P
    GUTTLER, F
    ACTA PAEDIATRICA, 1994, 83 : 27 - 33
  • [47] PRENATAL-DIAGNOSIS AND CARRIER DETECTION OF CLASSICAL PHENYLKETONURIA BY CLONING AND CHARACTERIZATION OF THE HUMAN PHENYLALANINE-HYDROXYLASE GENE
    WOO, SLC
    LIDSKY, A
    CHANDRA, T
    GUTTLER, F
    ROBSON, KJH
    AMERICAN JOURNAL OF HUMAN GENETICS, 1983, 35 (06) : A123 - A123
  • [48] CLONED HUMAN PHENYLALANINE-HYDROXYLASE GENE ALLOWS PRENATAL-DIAGNOSIS AND CARRIER DETECTION OF CLASSICAL PHENYLKETONURIA
    WOO, SLC
    LIDSKY, AS
    GUTTLER, F
    CHANDRA, T
    ROBSON, KJH
    NATURE, 1983, 306 (5939) : 151 - 155
  • [49] PRENATAL-DIAGNOSIS AND CARRIER DETECTION OF CLASSICAL PHENYLKETONURIA BY CLONING AND CHARACTERIZATION OF THE HUMAN PHENYLALANINE-HYDROXYLASE GENE
    WOO, SLC
    LIDSKY, A
    CHANDRA, T
    STACKHOUSE, R
    GUTTLER, F
    ROBSON, KJH
    CLINICAL RESEARCH, 1983, 31 (02): : A479 - A479
  • [50] PHENYLKETONURIA MUTANT ALLELES IN DIFFERENT POPULATIONS - MISSENSE MUTATION IN EXON-7 OF PHENYLALANINE-HYDROXYLASE GENE
    TAKARADA, Y
    KALANIN, J
    YAMASHITA, K
    OHTSUKA, N
    KAGAWA, S
    MATSUOKA, A
    CLINICAL CHEMISTRY, 1993, 39 (11) : 2354 - 2355
12345