GLYCOGEN-STORAGE-DISEASE TYPE-II - FREQUENCY OF 3 COMMON MUTANT ALLELES AND THEIR ASSOCIATED CLINICAL PHENOTYPES STUDIED IN 121 PATIENTS

被引：79

作者：

KROOS, MA

VANDERKRAAN, M

VANDIGGELEN, OP

KLEIJER, WJ

REUSER, AJJ

VANDENBOOGAARD, MJ

AUSEMS, MGEM

VANAMSTEL, HKP

机构：

[1] CLIN GENET CTR, 3501 CA UTRECHT, NETHERLANDS

[2] UNIV PARIS 05, CHU COCHIN, DEPT GENET & LYSOSOMAL PATHOL, PARIS, FRANCE

[3] ACAD HOSP, DEPT CLIN GENET, NIJMEGEN, NETHERLANDS

来源：

JOURNAL OF MEDICAL GENETICS | 1995年 / 32卷 / 10期

关键词：

D O I：

10.1136/jmg.32.10.836-a

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：836 / 837

页数：2

共 6 条

[1] THE EFFECT OF A SINGLE-BASE PAIR DELETION (DELTA-T525) AND A C1634T MISSENSE MUTATION (PRO545LEU) ON THE EXPRESSION OF LYSOSOMAL ALPHA-GLUCOSIDASE IN PATIENTS WITH GLYCOGEN-STORAGE-DISEASE TYPE-II [J].

HERMANS, MMP ;

DEGRAAFF, E ;

KROOS, MA ;

MOHKAMSING, S ;

EUSSEN, BJ ;

JOOSSE, M ;

WILLEMSEN, R ;

KLEIJER, WJ ;

OOSTRA, BA ;

REUSER, AJJ .

HUMAN MOLECULAR GENETICS, 1994, 3 (12) :2213-2218

[2]

HUIE ML, 1994, HUM MOL GENET, V3, P2231

[3] A DE-NOVO 13-NT DELETION, A NEWLY IDENTIFIED C647W MISSENSE MUTATION AND A DELETION OF EXON-18 IN INFANTILE ONSET GLYCOGEN-STORAGE-DISEASE TYPE-II (GSDII) [J].

HUIE, ML ;

CHEN, AS ;

BROOKS, SS ;

GRIX, A ;

HIRSCHHORN, R .

HUMAN MOLECULAR GENETICS, 1994, 3 (07) :1081-1087

[4] ANALYSIS OF ANY POINT MUTATION IN DNA - THE AMPLIFICATION REFRACTORY MUTATION SYSTEM (ARMS) [J].

NEWTON, CR ;

GRAHAM, A ;

HEPTINSTALL, LE ;

POWELL, SJ ;

SUMMERS, C ;

KALSHEKER, N ;

SMITH, JC ;

MARKHAM, AF .

NUCLEIC ACIDS RESEARCH, 1989, 17 (07) :2503-2516

[5]

REUSER AJJ, 1995, MUSCLE NERVE, pS61

[6] DELETION OF EXON-18 IS A FREQUENT MUTATION IN GLYCOGEN-STORAGE-DISEASE TYPE-II [J].

VANDERKRAAN, M ;

KROOS, MA ;

JOOSSE, M ;

BIJVOET, AGA ;

VERBEET, MP ;

KLEIJER, WJ ;

REUSER, AJJ .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1994, 203 (03) :1535-1541

← 1 →