IDENTIFICATION OF 4 NEW MUTATIONS IN THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE - I148T, L1077P, Y1092X, 2183AA-]G

被引：47

作者：

BOZON, D

ZIELENSKI, J

RININSLAND, F

TSUI, LC

机构：

[1] HOP DEBROUSSE,F-69322 LYON 05,FRANCE

[2] HOSP SICK CHILDREN,DEPT GENET,TORONTO M5G 1X8,ON,CANADA

来源：

关键词：

D O I：

10.1002/humu.1380030329

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：330 / 332

页数：3

共 15 条

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[3] THE SKIPPING OF CONSTITUTIVE EXONS INVIVO INDUCED BY NONSENSE MUTATIONS
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[J]. SCIENCE, 1993, 259 (5095) : 680 - 683
[4] CFTR NONSENSE MUTATIONS G542X AND W1282X ASSOCIATED WITH SEVERE REDUCTION OF CFTR MESSENGER-RNA IN NASAL EPITHELIAL-CELLS
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CHAKRAVARTI, A
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TSUI, LC
[J]. SCIENCE, 1989, 245 (4922) : 1073 - 1080
[6] KRISTIDIS P, 1992, AM J HUM GENET, V50, P1178
[7] MARSHALL J, 1991, J BIOL CHEM, V266, P22749
[8] OSBORNE L, 1991, AM J HUM GENET, V48, P606
[9] RIORDAN JR, 1989, SCIENCE, V245, P1066
[10] IDENTIFICATION OF THE CYSTIC-FIBROSIS GENE - CHROMOSOME WALKING AND JUMPING
ROMMENS, JM
IANNUZZI, MC
KEREM, BS
DRUMM, ML
MELMER, G
DEAN, M
ROZMAHEL, R
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KENNEDY, D
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TSUI, LC
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[J]. SCIENCE, 1989, 245 (4922) : 1059 - 1065