ACUTE INTERMITTENT PORPHYRIA CAUSED BY AN ARGINE TO HISTIDINE SUBSTITUTION (R26H) IN THE COFACTOR-BINDING CLEFT OF PORPHOBILINOGEN DEAMINASE

被引：32

作者：

LLEWELLYN, DH

WHATLEY, S

ELDER, GH

机构：

[1] UNIV WALES COLL MED,DEPT MED BIOCHEM,CARDIFF CF4 4XN,S GLAM,WALES

[2] UNIV HOSP WALES,CARDIFF CF4 4XN,S GLAM,WALES

来源：

HUMAN MOLECULAR GENETICS | 1993年 / 2卷 / 08期

基金：

英国惠康基金;

关键词：

D O I：

10.1093/hmg/2.8.1315

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

[No abstract available]

引用

页码：1315 / 1316

页数：2

共 14 条

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[2] ALTERNATIVE TRANSCRIPTION AND SPLICING OF THE HUMAN PORPHOBILINOGEN DEAMINASE GENE RESULT EITHER IN TISSUE-SPECIFIC OR IN HOUSEKEEPING EXPRESSION
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[3] 2 DIFFERENT POINT-G TO POINT-A MUTATIONS IN EXON-10 OF THE PORPHOBILINOGEN DEAMINASE GENE ARE RESPONSIBLE FOR ACUTE INTERMITTENT PORPHYRIA
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[4] DELFAU MH, 1991, AM J HUM GENET, V49, P421
[5] A POINT MUTATION G-]A IN EXON-12 OF THE PORPHOBILINOGEN DEAMINASE GENE RESULTS IN EXON SKIPPING AND IS RESPONSIBLE FOR ACUTE INTERMITTENT PORPHYRIA
GRANDCHAMP, B
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[J]. NUCLEIC ACIDS RESEARCH, 1989, 17 (16) : 6637 - 6649
[6] GU XF, 1992, AM J HUM GENET, V51, P660
[7] MUTAGENESIS OF ARGININE RESIDUES IN THE CATALYTIC CLEFT OF ESCHERICHIA-COLI PORPHOBILINOGEN DEAMINASE THAT AFFECTS DIPYRROMETHANE COFACTOR ASSEMBLY AND TETRAPYRROLE CHAIN INITIATION AND ELONGATION
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[J]. BIOCHEMICAL JOURNAL, 1991, 280 : 445 - 449
[8] KAPPAS A, 1989, METABOLIC BASIS INHE, P1305
[9] IDENTIFICATION OF THE MOST COMMON MUTATION WITHIN THE PORPHOBILINOGEN DEAMINASE GENE IN SWEDISH PATIENTS WITH ACUTE INTERMITTENT PORPHYRIA
LEE, JS
ANVRET, M
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (23) : 10912 - 10915
[10] LLEWELLYN DH, 1987, LANCET, V2, P706

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