TISSUE-CULTURE TECHNIQUES AS AN AID TO PRENATAL DIAGNOSIS AND GENETIC COUNSELING IN HOMOCYSTINURIA

被引：10

作者：

BITTLES, AH ^{[1
]}

CARSON, NAJ ^{[1
]}

机构：

[1] QUEENS UNIV,DEPT CHILD HLTH,RES LAB,BELFAST,NORTH IRELAND

来源：

JOURNAL OF MEDICAL GENETICS | 1973年 / 10卷 / 02期

关键词：

D O I：

10.1136/jmg.10.2.120

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：120 / 121

页数：2

共 11 条

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[2]

CARSON NAJ, 1971, INHERITED DISORDERS

[3] HOMOCYSTINURIA DUE TO CYSTATHIONINE SYNTHETASE DEFICIENCY - MODE OF INHERITANCE [J].

FINKELSTEIN, JD ;

MUDD, SH ;

LASTER, L ;

IRREVERRE, F .

SCIENCE, 1964, 146 (364) :785-+

[4] IDENTIFICATION OF HOMOCYSTINE IN URINE [J].

GERRITSEN, T ;

VAUGHN, JG ;

WAISMAN, HA .

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[5]

LOWRY OH, 1951, J BIOL CHEM, V193, P265

[6]

MUDD SH, 1965, J BIOL CHEM, V240, P4382

[7] HOMOCYSTINURIA - ENZYMATIC DEFECT [J].

MUDD, SH ;

LASTER, L ;

FINKELSTEIN, JD ;

IRREVERRE, F .

SCIENCE, 1964, 143 (361) :1443-&

[8]

MUDD SH, 1971, INHERITED DISORDERS

[9]

RITCHIE JA, IN PRESS

[10] STUDIES OF MECHANISM OF PYRIDOXINE-RESPONSIVE HOMOCYSTINURIA [J].

SEASHORE, M ;

ROSENBERG, LE ;

DURANT, JL .

PEDIATRIC RESEARCH, 1972, 6 (03) :187-+

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