LESCH-NYHAN SYNDROME - ABSENCE OF MUTANT ENZYME IN ERYTHROCYTES OF A HETEROZYGOTE FOR BOTH NORMAL AND MUTANT HYPOXANTHINE-GUANINE PHOSPHORIBOSYL TRANSFERASE

被引：36

作者：

MCDONALD, JA

KELLEY, WN

机构：

来源：

BIOCHEMICAL GENETICS | 1972年 / 6卷 / 01期

关键词：

D O I：

10.1007/BF00485961

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

页码：21 / &

共 16 条

[1]

KELLEY W N, 1970, Journal of Clinical Investigation, V49, P602, DOI 10.1172/JCI106271

[2] HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY IN GOUT [J].

KELLEY, WN ;

GREENE, ML ;

ROSENBLOOM, FM ;

HENDERSON, JF ;

SEEGMILLER, JE .

ANNALS OF INTERNAL MEDICINE, 1969, 70 (01) :155-+

[3]

KELLEY WN, 1968, FED PROC, V27, P1047

[4] A SPECIFIC ENZYME DEFECT IN GOUT ASSOCIATED WITH OVERPRODUCTION OF URIC ACID [J].

KELLEY, WN ;

ROSENBLO.FM ;

HENDERSO.JF ;

SEEGMILL.JE .

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[5]

KELLEY WR, UNPUBLISHED

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VANE, JR .

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[7] FAMILIAL DISORDER OF URIC ACID METABOLISM + CENTRAL NERVOUS SYSTEM FUNCTION [J].

LESCH, M ;

NYHAN, WL .

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[8] GENE ACTION IN X-CHROMOSOME OF MOUSE (MUS MUSCULUS L) [J].

LYON, MF .

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[9] LESCH-NYHAN SYNDROME - ALTERED KINETIC PROPERTIES OF MUTANT ENZYME [J].

MCDONALD, JA ;

KELLEY, WN .

SCIENCE, 1971, 171 (3972) :689-&

[10] X-LINKED HYPOXANTHINE-GUANINE PHOSPHORIBOSYL TRANSFERASE DEFICIENCY - DETECTION OF HETEROZYGOTES BY SELECTIVE MEDIUM [J].

MIGEON, BR .

BIOCHEMICAL GENETICS, 1970, 4 (03) :377-&

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