HETEROGENEITY OF THE MOLECULAR DEFECT IN HUMAN DIHYDROPTERIDINE REDUCTASE DEFICIENCY

被引:22
作者
FIRGAIRA, FA [1 ]
CHOO, KH [1 ]
COTTON, RGH [1 ]
DANKS, DM [1 ]
机构
[1] UNIV MELBOURNE,DEPT PAEDIAT,PARKVILLE,VIC 3052,AUSTRALIA
关键词
D O I
10.1042/bj1980677
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:677 / 682
页数:6
相关论文
共 15 条
[1]   GENETICS OF THE MAMMALIAN PHENYLALANINE-HYDROXYLASE SYSTEM .3. STUDIES OF HUMAN-LIVER PHENYLALANINE-HYDROXYLASE SUBUNIT STRUCTURE AND OF MUTATIONS IN PHENYLKETONURIA [J].
CHOO, KH ;
COTTON, RGH ;
DANKS, DM ;
JENNINGS, IG .
BIOCHEMICAL JOURNAL, 1979, 181 (02) :285-294
[2]   NAPHTHOQUINONE ADSORBENT FOR AFFINITY CHROMATOGRAPHY OF HUMAN DIHYDROPTERIDINE REDUCTASE [J].
COTTON, RGH ;
JENNINGS, I .
EUROPEAN JOURNAL OF BIOCHEMISTRY, 1978, 83 (01) :319-324
[3]  
Danks D M, 1978, J Inherit Metab Dis, V1, P49, DOI 10.1007/BF01801843
[4]   MALIGNANT HYPERPHENYLALANINEMIA - CLINICAL-FEATURES, BIOCHEMICAL FINDINGS, AND EXPERIENCE WITH ADMINISTRATION OF BIOPTERINS [J].
DANKS, DM ;
SCHLESINGER, P ;
FIRGAIRA, F ;
COTTON, RGH ;
WATSON, BM ;
REMBOLD, H ;
HENNINGS, G .
PEDIATRIC RESEARCH, 1979, 13 (10) :1150-1155
[5]   PLAQUE FORMATION AND ISOLATION OF PURE LINES WITH POLIOMYELITIS VIRUSES [J].
DULBECCO, R ;
VOGT, M .
JOURNAL OF EXPERIMENTAL MEDICINE, 1954, 99 (02) :167-182
[6]   ISOLATION OF PURE IGG1, IGG2A AND IGG2B IMMUNOGLOBULINS FROM MOUSE SERUM USING PROTEIN A-SEPHAROSE [J].
EY, PL ;
PROWSE, SJ ;
JENKIN, CR .
IMMUNOCHEMISTRY, 1978, 15 (07) :429-436
[7]  
FIRGAIRA FA, 1980, LANCET, V1, P160
[8]   MOLECULAR AND IMMUNOLOGICAL COMPARISON OF HUMAN DIHYDROPTERIDINE REDUCTASE IN LIVER, CULTURED FIBROBLASTS AND CONTINUOUS LYMPHOID-CELLS [J].
FIRGAIRA, FA ;
CHOO, KH ;
COTTON, RGH ;
DANKS, DM .
BIOCHEMICAL JOURNAL, 1981, 197 (01) :45-53
[9]   ISOLATION AND CHARACTERIZATION OF DIHYDROPTERIDINE REDUCTASE FROM HUMAN-LIVER [J].
FIRGAIRA, FA ;
COTTON, RGH ;
DANKS, DM .
BIOCHEMICAL JOURNAL, 1981, 197 (01) :31-43
[10]   HUMAN DIHYDROPTERIDINE REDUCTASE - METHOD FOR THE MEASUREMENT OF ACTIVITY IN CULTURED-CELLS, AND ITS APPLICATION TO MALIGNANT HYPERPHENYLALANINEMIA [J].
FIRGAIRA, FA ;
COTTON, RGH ;
DANKS, DM .
CLINICA CHIMICA ACTA, 1979, 95 (01) :47-59