Glycerol kinase deficiency and adrenal hypoplasia congenita

被引:2
作者
Clarke, RA
Howard, N
OSullivan, WJ
Svirklys, LG
Mackinlay, AG
机构
[1] UNIV NEW S WALES,SCH BIOL & MOL GENET,SYDNEY,NSW,AUSTRALIA
[2] PRINCE WALES HOSP,KENSINGTON,NSW,AUSTRALIA
关键词
D O I
10.1023/A:1005327713890
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
[No abstract available]
引用
收藏
页码:609 / 609
页数:1
相关论文
共 3 条
[1]   MUTATIONS IN THE DAX-1 GENE GIVE RISE TO BOTH X-LINKED ADRENAL HYPOPLASIA CONGENITA AND HYPOGONADOTROPIC HYPOGONADISM [J].
MUSCATELLI, F ;
STROM, TM ;
WALKER, AP ;
ZANARIA, E ;
RECAN, D ;
MEINDL, A ;
BARDONI, B ;
GUIOLI, S ;
ZEHETNER, G ;
RABL, W ;
SCHWARZ, HP ;
KAPLAN, JC ;
CAMERINO, G ;
MEITINGER, T ;
MONACO, AP .
NATURE, 1994, 372 (6507) :672-676
[2]   A RADIOCHEMICAL ENZYMATIC ACTIVITY ASSAY FOR GLYCEROL KINASE AND HEXOKINASE [J].
NEWSHOLME, EA ;
ROBINSON, J ;
TAYLOR, K .
BIOCHIMICA ET BIOPHYSICA ACTA, 1967, 132 (02) :338-+
[3]   ISOLATION OF THE HUMAN XP21 GLYCEROL KINASE GENE BY POSITIONAL CLONING [J].
WALKER, AP ;
MUSCATELLI, F ;
MONACO, AP .
HUMAN MOLECULAR GENETICS, 1993, 2 (02) :107-114