HETEROZYGOTE DETECTION IN MLD - ALLELIC MUTATIONS AT THE ARA LOCUS

被引：9

作者：

FARRELL, DF ^{[1
]}

机构：

[1] UNIV WASHINGTON,SCH MED,CTR CHILD DEV & MENTAL RETARDAT,SEATTLE,WA 98195

来源：

HUMAN GENETICS | 1981年 / 59卷 / 02期

关键词：

D O I：

10.1007/BF00293061

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：129 / 134

页数：6

共 44 条

[1]

Bailey JL, 1967, TECHNIQUES PROTEIN C, P340

[2] A PEDIGREE STUDY OF METACHROMATIC LEUKODYSTROPHY . BIOCHEMICAL IDENTIFICATION OF CARRIER STATE [J].

BASS, NH ;

WITMER, EJ ;

DREIFUSS, FE .

NEUROLOGY, 1970, 20 (01) :52-&

[3] THE ASSAY OF ARYLSULPHATASE-A AND ARYLSULPHATASE-B IN HUMAN URINE [J].

BAUM, H ;

DODGSON, KS ;

SPENCER, B .

CLINICA CHIMICA ACTA, 1959, 4 (03) :453-455

[4] DETECTION OF HOMOZYGOTES AND HETEROZYGOTES FOR METACHROMATIC LEUKODYSTROPHY IN LYMPHOID-CELL LINES AND PERIPHERAL LEUKOCYTES [J].

BERATIS, NG ;

DANESINO, C ;

HIRSCHHORN, K .

ANNALS OF HUMAN GENETICS, 1975, 38 (MAY) :485-493

[5] VARIATION OF ARYLSULPHATASE-A - COMPARATIVE STUDIES OF ARYLSULFATASE A WITH SYNTHETIC AND NATURAL SUBSTRATES IN 3 FAMILIES WITH METACHROMATIC LEUCODYSTROPHY [J].

CHRISTOMANOU, H ;

SANDHOFF, K .

NEUROPADIATRIE, 1978, 9 (04) :385-395

[6] PURIFICATION, MOLECULAR-WEIGHT, AMINO-ACID, AND SUBUNIT COMPOSITION OF ARYLSULFATASE A FROM HUMAN LIVER [J].

DRAPER, RK ;

FISKUM, GM ;

EDMOND, J .

ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS, 1976, 177 (02) :525-538

[7]

DUBOIS G, 1975, NEW ENGL J MED, V293, P302

[8]

DUBOIS G, 1977, AM J HUM GENET, V29, P191

[9] MULTIPLE MOLECULAR-FORMS OF ARYLSULFATASE-A IN DIFFERENT FORMS OF METACHROMATIC LEUKODYSTROPHY (MLD) [J].

FARRELL, DF ;

MACMARTIN, MP ;

CLARK, AF .

NEUROLOGY, 1979, 29 (01) :16-20

[10] ANTENATAL DIAGNOSIS OF KRABBES LEUCODYSTROPHY - ENZYMATIC AND MORPHOLOGICAL CONFIRMATION IN AN AFFECTED FETUS [J].

FARRELL, DF ;

SUMI, SM ;

SCOTT, CR ;

RICE, G .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1978, 41 (01) :76-82

← 1 2 3 4 5 →