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
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 14 条
  • [1] A SINGLE ORIGIN OF PHENYLKETONURIA IN YEMENITE JEWS
    AVIGAD, S
    COHEN, BE
    BAUER, S
    SCHWARTZ, G
    FRYDMAN, M
    WOO, SLC
    NINY, Y
    SHILOH, Y
    [J]. NATURE, 1990, 344 (6262) : 168 - 170
  • [2] CAILLAUD C, 1991, J BIOL CHEM, V266, P9351
  • [3] EIGEL A, 1991, HUM GENET, V87, P739
  • [4] Eisensmith Randy C., 1992, Human Mutation, V1, P13, DOI 10.1002/humu.1380010104
  • [5] GULBERG P, 1993, GENOMICS, V17, P141
  • [6] GULBERG P, 1993, HUM MOL GENET, V2, P1703
  • [7] Jaruzelska Jadwiga, 1992, Human Molecular Genetics, V1, P763
  • [8] SILENT MUTATIONS IN THE PHENYLALANINE-HYDROXYLASE GENE AS AN AID TO THE DIAGNOSIS OF PHENYLKETONURIA
    KALAYDJIEVA, L
    DWORNICZAK, B
    AULEHLASCHOLZ, C
    DEVOTO, M
    ROMEO, G
    STURHMANN, M
    KUCINSKAS, V
    YURGELYAVICIUS, V
    HORST, J
    [J]. JOURNAL OF MEDICAL GENETICS, 1991, 28 (10) : 686 - 690
  • [9] KALAYDJIEVA L, 1991, AM J HUM GENET, V49, pA192
  • [10] Kaufman S., 1976, ADV NEUROCHEM, P1