LESCH-NYHAN SYNDROME - RAPID DETECTION OF HETEROZYGOTES BY USE OF HAIR FOLLICLES

被引:91
作者
GARTLER, SM
SCOTT, RC
GOLDSTEIN, JL
CAMPBELL, B
SPARKES, R
机构
关键词
D O I
10.1126/science.172.3983.572
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
引用
收藏
页码:572 / +
页数:1
相关论文
共 11 条
[1]   ABSENCE OF MOSAICISM IN LYMPHOCYTE IN X-LINKED CONGENITAL HYPERURICOSURIA [J].
DANCIS, J ;
BERMAN, PH ;
JANSEN, V ;
BALIS, ME .
LIFE SCIENCES PART 1 PHYSIOLOGY AND PHARMACOLOGY AND PART 2 BIOCHEMISTRY GENERAL AND MOLECULAR BIOLOGY, 1968, 7 (12P2) :587-&
[2]   GLUCOSE-6 PHOSPHATE DEHYDROGENASE MOSAICISM - UTILIZATION AS A TRACER IN STUDY OF DEVELOPMENT OF HAIR ROOT CELLS [J].
GARTLER, SM ;
GANDINI, E ;
ANGIONI, G ;
ARGIOLAS, N .
ANNALS OF HUMAN GENETICS, 1969, 33 :171-&
[3]   DEPENDENCE OF BONE MARROW CELLS ON THE LIVER FOR PURINE SUPPLY [J].
LAJTHA, LG ;
VANE, JR .
NATURE, 1958, 182 (4629) :191-192
[4]   FAMILIAL DISORDER OF URIC ACID METABOLISM + CENTRAL NERVOUS SYSTEM FUNCTION [J].
LESCH, M ;
NYHAN, WL .
AMERICAN JOURNAL OF MEDICINE, 1964, 36 (04) :561-&
[6]   X-LINKED HYPOXANTHINE-GUANINE PHOSPHORIBOSYL TRANSFERASE DEFICIENCY - HETEROZYGOTE HAS 2 CLONAL POPULATIONS [J].
MIGEON, BR ;
DERKALOU.VM ;
NYHAN, WL ;
YOUNG, WJ ;
CHILDS, B .
SCIENCE, 1968, 160 (3826) :425-&
[7]   HEMIZYGOUS EXPRESSION OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE IN ERYTHROCYTES OF HETEROZYGOTES FOR LESCH-NYHAN SYNDROME [J].
NYHAN, WL ;
BAKAY, B ;
CONNOR, JD ;
MARKS, JF ;
KEELE, DK .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1970, 65 (01) :214-&
[8]   ION-EXCHANGE CHROMATOGRAPHY OF NUCLEOTIDES ON POLY-(ETHYLENEIMINE)-CELLULOSE THIN LAYERS [J].
RANDERATH, K ;
RANDERRA.E .
JOURNAL OF CHROMATOGRAPHY, 1964, 16 (01) :111-+
[9]   SINGLE-ALLELE EXPRESSION AT AN X-LINKED HYPERURICEMIA LOCUS IN HETEROZYGOUS HUMAN CELLS [J].
SALZMANN, J ;
DEMARS, R ;
BENKE, P .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1968, 60 (02) :545-&
[10]   ENZYME DEFECT ASSOCIATED WITH A SEX-LINKED HUMAN NEUROLOGICAL DISORDER AND EXCESSIVE PURINE SYNTHESIS [J].
SEEGMILLER, JE ;
ROSENBLOOM, FM ;
KELLEY, WN .
SCIENCE, 1967, 155 (3770) :1682-+