METACHROMATIC LEUKODYSTROPHY - A 12-BP DELETION IN EXON-2 OF THE ARYLSULFATASE-A GENE IN A LATE INFANTILE VARIANT

被引：13

作者：

LUYTEN, JAFM

WENINK, PW

STEENBERGENSPANJERS, GCH

WEVERS, RA

VANAMSTEL, HKP

DEJONG, JGN

VANDENHEUVEL, LPWJ

机构：

[1] UNIV UTRECHT HOSP,DNA DIAGNOST LAB,UTRECHT,NETHERLANDS

[2] CLIN GENET CTR,DNA LAB,3501 CA UTRECHT,NETHERLANDS

来源：

HUMAN GENETICS | 1995年 / 96卷 / 03期

关键词：

D O I：

10.1007/BF00210424

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Sequencing of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient showed the presence of a 12-bp deletion in exon 2. This deletion was found in a compound heterozygous state with the pre viously described 287 C-->T transition.

引用

页码：357 / 360

页数：4

共 6 条

[1] PREDICTION OF PROTEIN CONFORMATION [J].