STUDIES IN FIBROBLASTS OF PATIENTS WITH THE LESCH-NYHAN SYNDROME AND HPRT VARIANTS - CORRELATION OF HPRT ACTIVITY WITH HYPOXANTHINE UTILIZATION AND GROWTH IN SELECTION MEDIA

被引：3
|
作者：
WILLERS, I [1 ]
SINGH, S [1 ]
GOEDDE, HW [1 ]
机构：
[1] UNIV HAMBURG,INST HUMAN GENET,BUTENFELD 32,D-2000 HAMBURG 54,FED REP GER
来源：
ENZYME | 1984年 / 32卷 / 04期
关键词：
D O I：
10.1159/000469485
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：241 / 247
页数：7
相关论文
共 50 条
  • [21] Lesch-Nyhan Syndrome in an Indian Family with Novel Mutation in the HPRT1 Gene
    Sharma, Suvasini
    Torres Jimenez, Rosa
    Aneja, Satinder
    Garcia, Marta G.
    Sethi, Gulshan R.
    INDIAN JOURNAL OF PEDIATRICS, 2012, 79 (11): : 1520 - 1522
  • [22] MOLECULAR CHARACTERIZATION OF A DELETION IN THE HPRT1 GENE IN A PATIENT WITH LESCH-NYHAN SYNDROME
    Taniguchi, A.
    Yamada, Y.
    Hakoda, M.
    Sekita, C.
    Kawamoto, M.
    Kaneko, H.
    Yamanaka, H.
    NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS, 2011, 30 (12): : 1266 - 1271
  • [23] THE MOLECULAR CHARACTERIZATION OF HPRT(CHERMSIDE) AND HPRT(COORPAROO) - 2 LESCH-NYHAN PATIENTS WITH REDUCED AMOUNTS OF MESSENGER-RNA
    GORDON, RB
    DAWSON, PA
    SCULLEY, DG
    EMMERSON, BT
    CASKEY, CT
    GIBBS, RA
    GENE, 1991, 108 (02) : 299 - 304
  • [24] Lesch-Nyhan Syndrome in an Indian Family with Novel Mutation in the HPRT1 Gene
    Suvasini Sharma
    Rosa Torres Jiménez
    Satinder Aneja
    Marta G. Garcia
    Gulshan R. Sethi
    The Indian Journal of Pediatrics, 2012, 79 : 1520 - 1522
  • [25] A recurrent large Alu-mediated deletion in the hypoxanthine phosphoribosyltransferase (HPRT1) gene associated with Lesch-Nyhan syndrome
    Mizunuma, M
    Fujimori, S
    Ogino, H
    Ueno, T
    Inoue, H
    Kamatani, N
    HUMAN MUTATION, 2001, 18 (05) : 435 - 443
  • [26] DOES THE BEHAVIOURAL PHENOTYPE OF LESCH-NYHAN DISEASE/LESCH NYHAN VARIANT DISORDER CORRELATE BEST WITH HPRT OR GPRT ENZYME ACTIVITY?
    Harris, J. C.
    Ward, R.
    Callon, W.
    Fu, R.
    Jinnah, H.
    Schretlen, D.
    JOURNAL OF INTELLECTUAL DISABILITY RESEARCH, 2015, 59 (09) : 792 - 792
  • [27] A NEW MUTATION AT EXON 2 OF HPRT1 LOCUS CAUSING LESCH-NYHAN SYNDROME
    Gil Zapata, Adriana Maria
    Castillo Pico, Adriana
    Gusmao, Leonor
    Amorim, Antonio
    Rodriguez-Sanabria, Fernando
    REVISTA INNOVACIENCIA, 2015, 3 (01): : 18 - 21
  • [28] STUDIES ON HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE IN FIBROBLASTS FROM PATIENTS WITH LESCH-NYHAN SYNDROME - EVIDENCE FOR GENETIC HETEROGENEITY
    KELLEY, WN
    MEADE, JC
    JOURNAL OF BIOLOGICAL CHEMISTRY, 1971, 246 (09) : 2953 - &
  • [29] FAMILY STUDIES OF THE LESCH-NYHAN SYNDROME USING A RESTRICTION FRAGMENT LENGTH POLYMORPHISM CLOSELY LINKED WITH THE HPRT GENE
    GIBBS, DA
    HEADHOUSEBENSON, CM
    WATTS, RWE
    CLINICAL SCIENCE, 1985, 69 : P52 - P52
  • [30] A POTENTIAL ANIMAL-MODEL FOR LESCH-NYHAN SYNDROME THROUGH INTRODUCTION OF HPRT MUTATIONS INTO MICE
    KUEHN, MR
    BRADLEY, A
    ROBERTSON, EJ
    EVANS, MJ
    NATURE, 1987, 326 (6110) : 295 - 298
12345