NOVEL HOMOZYGOUS MUTATION OF PHENYLALANINE-HYDROXYLASE GENE IN A CHINESE PATIENT WITH PHENYLKETONURIA

被引:0
|
作者
TAKARADA, Y [1 ]
YAMASHITA, K [1 ]
OHTSUKA, N [1 ]
KAGAWA, S [1 ]
MATSUOKA, A [1 ]
机构
[1] HYOGO MED UNIV,CLIN LAB,1-1 MUKOGAWA CHO,NISHINOMIYA,HYOGO 663,JAPAN
关键词
D O I
暂无
中图分类号
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号
1001 ;
摘要
引用
收藏
页码:1350 / 1350
页数:1
相关论文
共 50 条
  • [1] NOVEL MUTATION IN EXON-7 OF PHENYLALANINE-HYDROXYLASE GENE IN A CHINESE PATIENT WITH PHENYLKETONURIA
    TAKARADA, Y
    YAMASHITA, K
    OHTSUKA, N
    KAGAWA, S
    MATSUOKA, A
    CLINICAL CHEMISTRY, 1993, 39 (11) : 2357 - 2357
  • [2] PHENYLKETONURIA AND THE PHENYLALANINE-HYDROXYLASE GENE
    EISENSMITH, RC
    WOO, SLC
    MOLECULAR BIOLOGY & MEDICINE, 1991, 8 (01) : 3 - 18
  • [3] A NOVEL MISSENSE MUTATION IN THE PHENYLALANINE-HYDROXYLASE GENE OF A HOMOZYGOUS PAKISTANI PATIENT WITH NON-PKU HYPERPHENYLALANINEMIA
    GULDBERG, P
    LOU, HC
    HENRIKSEN, KF
    MIKKELSEN, I
    OLSEN, B
    HOLCK, B
    GUTTLER, F
    HUMAN MOLECULAR GENETICS, 1993, 2 (07) : 1061 - 1062
  • [4] 5 NOVEL MISSENSE MUTATIONS OF THE PHENYLALANINE-HYDROXYLASE GENE IN PHENYLKETONURIA
    BENIT, P
    REY, F
    MELLE, D
    MUNNICH, A
    REY, J
    HUMAN MUTATION, 1994, 4 (03) : 229 - 231
  • [5] SEVERITY OF MUTATION IN THE PHENYLALANINE-HYDROXYLASE GENE INFLUENCES PHENYLALANINE METABOLISM IN PHENYLKETONURIA AND HYPERPHENYLALANINEMIA HETEROZYGOTES
    SVENSSON, E
    ISELIUS, L
    HAGENFELDT, L
    JOURNAL OF INHERITED METABOLIC DISEASE, 1994, 17 (02) : 215 - 222
  • [6] PHENYLALANINE-HYDROXYLASE GENE - NOVEL MISSENSE MUTATION IN EXON-7 CAUSING SEVERE PHENYLKETONURIA
    DWORNICZAK, B
    GRUDDA, K
    STUMPER, J
    BARTHOLOME, K
    AULEHLASCHOLZ, C
    HORST, J
    GENOMICS, 1991, 9 (01) : 193 - 199
  • [7] RFLP HAPLOTYPING AND MUTATION ANALYSIS OF THE PHENYLALANINE-HYDROXYLASE GENE IN DUTCH PHENYLKETONURIA FAMILIES
    MEIJER, H
    JONGBLOED, RJE
    HEKKING, M
    SPAAPEN, LJM
    GERAEDTS, JPM
    HUMAN GENETICS, 1993, 92 (06) : 588 - 592
  • [8] NOVEL FRAME-SHIFT DELETIONS OF THE PHENYLALANINE-HYDROXYLASE GENE IN PHENYLKETONURIA
    BENIT, P
    REY, F
    MELLE, D
    MUNNICH, A
    REY, J
    HUMAN MOLECULAR GENETICS, 1994, 3 (04) : 675 - 676
  • [9] CHARACTERIZATION OF THE HUMAN PHENYLALANINE-HYDROXYLASE GENE AND ANALYSIS OF PHENYLKETONURIA
    DILELLA, AG
    ROBSON, KJH
    LIDSKY, A
    CHANDRA, T
    WOO, SLC
    FEDERATION PROCEEDINGS, 1983, 42 (07) : 1806 - 1806
  • [10] IDENTIFICATION OF A MUTATION IN THE 12TH EXON OF THE PHENYLALANINE-HYDROXYLASE GENE IN PATIENTS WITH PHENYLKETONURIA
    SKRYABIN, BV
    KOVALCHUK, LA
    KHALCHITSKII, SE
    GOLTSOV, AA
    KABOEV, OK
    PLUTALOV, OV
    BERLIN, YA
    SCHWARTZ, EI
    BIOORGANICHESKAYA KHIMIYA, 1989, 15 (12): : 1690 - 1692