MOLECULAR-GENETICS OF PORPHYRIAS

被引：18

作者：

NORDMANN, Y ^{[1
]}

DEVERNEUIL, H ^{[1
]}

DEYBACH, JC ^{[1
]}

DELFAU, MH ^{[1
]}

GRANDCHAMP, B ^{[1
]}

机构：

[1] FAC XAVIER BICHAT,GENET MOLEC LAB,PARIS,FRANCE

来源：

ANNALS OF MEDICINE | 1990年 / 22卷 / 06期

关键词：

D O I：

10.3109/07853899009147275

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页码：387 / 391

页数：5

共 27 条

[1] ALTERNATIVE TRANSCRIPTION AND SPLICING OF THE HUMAN PORPHOBILINOGEN DEAMINASE GENE RESULT EITHER IN TISSUE-SPECIFIC OR IN HOUSEKEEPING EXPRESSION
CHRETIEN, S
DUBART, A
BEAUPAIN, D
RAICH, N
GRANDCHAMP, B
ROSA, J
GOOSSENS, M
ROMEO, PH
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1988, 85 (01) : 6 - 10
[2] 2 DIFFERENT POINT-G TO POINT-A MUTATIONS IN EXON-10 OF THE PORPHOBILINOGEN DEAMINASE GENE ARE RESPONSIBLE FOR ACUTE INTERMITTENT PORPHYRIA
DELFAU, MH
PICAT, C
DEROOIJ, FWM
HAMER, K
BOGARD, M
WILSON, JHP
DEYBACH, JC
NORDMANN, Y
GRANDCHAMP, B
[J]. JOURNAL OF CLINICAL INVESTIGATION, 1990, 86 (05) : 1511 - 1516
[3] ACUTE INTERMITTENT PORPHYRIA - CHARACTERIZATION OF A NOVEL MUTATION IN THE STRUCTURAL GENE FOR PORPHOBILINOGEN DEAMINASE - DEMONSTRATION OF NONCATALYTIC ENZYME INTERMEDIATES STABILIZED BY BOUND SUBSTRATE
DESNICK, RJ
OSTASIEWICZ, LT
TISHLER, PA
MUSTAJOKI, P
[J]. JOURNAL OF CLINICAL INVESTIGATION, 1985, 76 (02) : 865 - 874
[4] PREVALENCE OF THE 281 (GLY-]GLU) MUTATION IN HEPATOERYTHROPOIETIC PORPHYRIA AND PORPHYRIA CUTANEA-TARDA
DEVERNEUIL, H
HANSEN, J
PICAT, C
GRANDCHAMP, B
KUSHNER, J
ROBERTS, A
ELDER, G
NORDMANN, Y
[J]. HUMAN GENETICS, 1988, 78 (01) : 101 - 102
[5] DEVERNEUIL H, 1984, AM J HUM GENET, V36, P613
[6] UROPORPHYRINOGEN DECARBOXYLASE STRUCTURAL MUTANT (GLY281-]GLU) IN A CASE OF PORPHYRIA
DEVERNEUIL, H
GRANDCHAMP, B
BEAUMONT, C
PICAT, C
NORDMANN, Y
[J]. SCIENCE, 1986, 234 (4777) : 732 - 734
[7] DEVERNEUIL H, 1986, PORPHYRINS PORPHYRIN, P201
[8] DEYBACH JC, 1990, BLOOD, V75, P1763
[9] ELDER GH, 1983, LANCET, V1, P1301
[10] ELDER GH, 1981, LANCET, V1, P916

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