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
来源：
CLINICAL CHEMISTRY | 1993年 / 39卷 / 06期
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
  • [41] RECURRENT NONSENSE MUTATION IN EXON-7 OF THE PHENYLALANINE-HYDROXYLASE GENE
    DWORNICZAK, B
    KALAYDJIEVA, L
    AULEHLASCHOLZ, C
    ULLRICH, K
    KREMENSKY, I
    RADEVA, B
    HORST, J
    HUMAN GENETICS, 1991, 87 (06) : 731 - 733
  • [42] A THIRD ALLELE AT PHENYLALANINE-HYDROXYLASE LOCUS IN MILD PHENYLKETONURIA (HYPERPHENYLALANINAEMIA)
    WOOLF, LI
    GOODWIN, BL
    CRANSTON, WI
    WADE, DN
    WOOLF, F
    HUDSON, FP
    MCBEAN, MS
    LANCET, 1968, 1 (7534): : 114 - +
  • [43] INACTIVATION OF PHENYLALANINE-HYDROXYLASE BY A MISSENSE MUTATION, R270S, IN A PALESTINIAN KINSHIP WITH PHENYLKETONURIA
    KLEIMAN, S
    LI, J
    SCHWARTZ, G
    EISENSMITH, RC
    WOO, SLC
    SHILOH, Y
    HUMAN MOLECULAR GENETICS, 1993, 2 (05) : 605 - 606
  • [44] PHENYLALANINE-HYDROXYLASE DEFICIENCY CAUSED BY A SINGLE BASE SUBSTITUTION IN AN EXON OF THE HUMAN PHENYLALANINE-HYDROXYLASE GENE
    LICHTERKONECKI, U
    KONECKI, DS
    DILELLA, AG
    BRAYTON, K
    MARVIT, J
    HAHN, TM
    TREFZ, FK
    WOO, SLC
    BIOCHEMISTRY, 1988, 27 (08) : 2881 - 2885
  • [45] A silent mutation induces exon skipping in the phenylalanine hydroxylase gene in phenylketonuria
    Chao, HK
    Hsiao, KJ
    Su, TS
    HUMAN GENETICS, 2001, 108 (01) : 14 - 19
  • [46] Mutation Characteristics of Phenylalanine Hydroxylase Gene in Children with Phenylketonuria in Yinchuan City
    Yu, Xinyou
    Liu, Fang
    Wei, Bo
    Li, Meijuan
    Lu, Ruiping
    Pan, Lihua
    DISCOVERY MEDICINE, 2023, 35 (177) : 533 - 538
  • [47] A silent mutation induces exon skipping in the phenylalanine hydroxylase gene in phenylketonuria
    Hung-Kun Chao
    Kwang-Jen Hsiao
    Tsung-Sheng Su
    Human Genetics, 2001, 108 : 14 - 19
  • [48] MOLECULAR-GENETICS OF PHENYLKETONURIA IN ORIENTALS - LINKAGE DISEQUILIBRIUM BETWEEN AN TERMINATION MUTATION AND HAPLOTYPE-4 OF THE PHENYLALANINE-HYDROXYLASE GENE
    WANG, T
    OKANO, Y
    EISENSMITH, R
    HUANG, SZ
    ZENG, YT
    LO, WHY
    WOO, SLC
    AMERICAN JOURNAL OF HUMAN GENETICS, 1989, 45 (05) : 675 - 680
  • [49] SCREENING FOR MUTATIONS IN THE PHENYLALANINE-HYDROXYLASE GENE FROM ITALIAN PATIENTS WITH PHENYLKETONURIA BY USING THE CHEMICAL CLEAVAGE METHOD - A NEW SPLICE MUTATION
    DIANZANI, I
    FORREST, SM
    CAMASCHELLA, C
    SAGLIO, G
    PONZONE, A
    COTTON, RGH
    AMERICAN JOURNAL OF HUMAN GENETICS, 1991, 48 (03) : 631 - 635
  • [50] Identification and characterization of a novel deletion in the phenylalanine hydroxylase gene of a Chinese patient
    Huang, Yu-qiang
    Yang, Fan
    Zhu, Jin-ping
    Qiu, Ji-gang
    Li, Yong-li
    Zhang, Li
    Li, Hua-feng
    Zhang, Yan-li
    Qin, Sheng-ying
    GENE REPORTS, 2020, 21
12345