TISSUE-SPECIFIC SPLICING MUTATION IN ACUTE INTERMITTENT PORPHYRIA

被引：105

作者：

GRANDCHAMP, B

PICAT, C

MIGNOTTE, V

WILSON, JHP

TEVELDE, K

SANDKUYL, L

ROMEO, PH

GOOSSENS, M

NORDMANN, Y

机构：

[1] HOP HENRI MONDOR,INSERM,U91,F-94010 CRETEIL,FRANCE

[2] ERASMUS UNIV,DEPT INTERNAL MED,3000 DR ROTTERDAM,NETHERLANDS

[3] ST GEERTRUIDEN HOSP,DEPT INTERNAL MED,DEVENTER,NETHERLANDS

[4] HOP LOUIS MOURIER,BIOCHIM LAB,F-92701 COLOMBES,FRANCE

来源：

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA | 1989年 / 86卷 / 02期

关键词：

D O I：

10.1073/pnas.86.2.661

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

引用

页码：661 / 664

页数：4

共 20 条

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[5] TIGHT LINKAGE BETWEEN A SPLICING MUTATION AND A SPECIFIC DNA HAPLOTYPE IN PHENYLKETONURIA
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[7] TISSUE-SPECIFIC EXPRESSION OF PORPHOBILINOGEN DEAMINASE - 2 ISOENZYMES FROM A SINGLE GENE
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[J]. EUROPEAN JOURNAL OF BIOCHEMISTRY, 1987, 162 (01): : 105 - 110
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[9] KAPPAS A, 1983, METABOLIC BASIS INHE, P1301
[10] AN IMPROVED METHOD FOR PRENATAL-DIAGNOSIS OF GENETIC-DISEASES BY ANALYSIS OF AMPLIFIED DNA-SEQUENCES - APPLICATION TO HEMOPHILIA-A
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