MUCOPOLYSACCHARIDOSIS TYPE-I - IDENTIFICATION OF 13 NOVEL MUTATIONS OF THE ALPHA-L-IDURONIDASE GENE

被引：45

作者：

BUNGE, S

KLEIJER, WJ

STEGLICH, C

BECK, M

SCHWINGER, E

GAL, A

机构：

[1] ERASMUS UNIV ROTTERDAM,DEPT CLIN GENET,3000 DR ROTTERDAM,NETHERLANDS

[2] UNIV MAINZ,KINDERKLIN,D-55101 MAINZ,GERMANY

来源：

HUMAN MUTATION | 1995年 / 6卷 / 01期

关键词：

D O I：

10.1002/humu.1380060119

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：91 / 94

页数：4

共 15 条

[1] BACH G, 1993, AM J HUM GENET, V53, P330
[2] MUCOPOLYSACCHARIDOSIS TYPE-I - IDENTIFICATION OF 8 NOVEL MUTATIONS AND DETERMINATION OF THE FREQUENCY OF THE 2 COMMON ALPHA-1-IDURONIDASE MUTATIONS (W402X AND Q70X) AMONG EUROPEAN PATIENTS
BUNGE, S
KLEIJER, WJ
STEGLICH, C
BECK, M
ZUTHER, C
MORRIS, CP
SCHWINGER, E
HOPWOOD, JJ
SCOTT, HS
GAL, A
[J]. HUMAN MOLECULAR GENETICS, 1994, 3 (06) : 861 - 866
[3] 2 NOVEL MUTATIONS CAUSING MUCOPOLYSACCHARIDOSIS TYPE-1 DETECTED BY SINGLE-STRAND CONFORMATIONAL-ANALYSIS OF THE ALPHA-L-IDURONIDASE GENE
CLARKE, LA
SCOTT, HS
[J]. HUMAN MOLECULAR GENETICS, 1993, 2 (08) : 1311 - 1312
[4] MUTATION ANALYSIS OF 19 NORTH-AMERICAN MUCOPOLYSACCHARIDOSIS TYPE-I PATIENTS - IDENTIFICATION OF 2 ADDITIONAL FREQUENT MUTATIONS
CLARKE, LA
NELSON, PV
WARRINGTON, CL
MORRIS, CP
HOPWOOD, JJ
SCOTT, HS
[J]. HUMAN MUTATION, 1994, 3 (03) : 275 - 282
[5] KRAWCZAK M, 1991, HUM GENET, V86, P425
[6] A DELETION INSERTION MUTATION IN THE IDUA GENE IN A LIBYAN JEWISH PATIENT WITH HURLER SYNDROME (MUCOPOLYSACCHARIDOSIS IH)
MOSKOWITZ, SM
TIEU, PT
NEUFELD, EF
[J]. HUMAN MUTATION, 1993, 2 (01) : 71 - 73
[7] MUTATION IN SCHEIE SYNDROME (MPS-IS) - A G-]A TRANSITION CREATES NEW SPLICE SITE IN INTRON 5 OF ONE IDUA ALLELE
MOSKOWITZ, SM
TIEU, PT
NEUFELD, EF
[J]. HUMAN MUTATION, 1993, 2 (02) : 141 - 144
[8] Neufeld EF, 1989, METABOLIC BASIS INHE, P1565
[9] Scott Hamish S., 1992, Human Mutation, V1, P333, DOI 10.1002/humu.1380010412
[10] Scott Hamish S., 1992, Human Mutation, V1, P103, DOI 10.1002/humu.1380010204

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