FAMILY STUDIES OF THE LESCH-NYHAN SYNDROME - THE USE OF A RESTRICTION-FRAGMENT-LENGTH-POLYMORPHISM (RFLP) CLOSELY LINKED TO THE DISEASE GENE FOR CARRIER STATE AND PRENATAL-DIAGNOSIS

被引：15

作者：

GIBBS, DA

HEADHOUSEBENSON, CM

WATTS, RWE

机构：

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1986年 / 9卷 / 01期

关键词：

D O I：

10.1007/BF01813902

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：45 / 58

页数：14

共 11 条

[1] STUDIES ON HUMAN ERYTHROCYTE IMP - PYROPHOSPHATE PHOSPHORIBOSYLTRANSFERASE [J].

CRAFT, JA ;

WATTS, RWE ;

WESTWICK, WJ .

EUROPEAN JOURNAL OF BIOCHEMISTRY, 1970, 15 (02) :367-&

[2]

GIBBS DA, 1984, LANCET, V2, P1180

[3] RAPID PRENATAL DIAGNOSIS OF LESCH-NYHAN SYNDROME [J].

HALLEY, D ;

HEUKELSDULLY, MJ .

JOURNAL OF MEDICAL GENETICS, 1977, 14 (02) :100-102

[4] ISOLATION AND CHARACTERIZATION OF A FULL-LENGTH EXPRESSIBLE CDNA FOR HUMAN HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE [J].

JOLLY, DJ ;

OKAYAMA, H ;

BERG, P ;

ESTY, AC ;

FILPULA, D ;

BOHLEN, P ;

JOHNSON, GG ;

SHIVELY, JE ;

HUNKAPILLAR, T ;

FRIEDMANN, T .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1983, 80 (02) :477-481

[5]

MCKERAN RO, 1975, Q J MED, V44, P189

[6] A 3-ALLELE RESTRICTION-FRAGMENT-LENGTH POLYMORPHISM AT THE HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE LOCUS IN MAN [J].

NUSSBAUM, RL ;

CROWDER, WE ;

NYHAN, WL ;

CASKEY, CT .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1983, 80 (13) :4035-4039

[7] HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE VARIANTS - CORRELATION OF CLINICAL PHENOTYPE WITH ENZYME-ACTIVITY [J].

PAGE, T ;

BAKAY, B ;

NISSINEN, E ;

NYHAN, WL .

JOURNAL OF INHERITED METABOLIC DISEASE, 1981, 4 (04) :203-206

[8] LOCALIZATION OF LOCI FOR HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE AND GLUCOSE-6-PHOSPHATE-DEHYDROGENASE AND BIOCHEMICAL-EVIDENCE OF NON-RANDOM X-CHROMOSOME EXPRESSION FROM STUDIES OF A HUMAN X-AUTOSOME TRANSLOCATION [J].

PAI, GS ;

SPRENKLE, JA ;

DO, TT ;

MARENI, CE ;

MIGEON, BR .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1980, 77 (05) :2810-2813

[9] DETECTION OF SPECIFIC SEQUENCES AMONG DNA FRAGMENTS SEPARATED BY GEL-ELECTROPHORESIS [J].

SOUTHERN, EM .

JOURNAL OF MOLECULAR BIOLOGY, 1975, 98 (03) :503-+

[10]

WATTS RWE, 1982, Q J MED, V51, P43

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