MILD CYSTIC-FIBROSIS IN CHILD HOMOZYGOUS FOR G542 NONSENSE MUTATION IN CF GENE

被引：17

作者：

BONDUELLE, M

LISSENS, W

LIEBAERS, I

MALFROOT, A

DAB, I

机构：

来源：

LANCET | 1991年 / 338卷 / 8760期

关键词：

D O I：

10.1016/0140-6736(91)90181-N

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

收藏

页码：189 / 189

页数：1

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[1] A CLUSTER OF CYSTIC-FIBROSIS MUTATIONS IN THE 1ST NUCLEOTIDE-BINDING FOLD OF THE CYSTIC-FIBROSIS CONDUCTANCE REGULATOR PROTEIN
CUTTING, GR
KASCH, LM
ROSENSTEIN, BJ
ZIELENSKI, J
TSUI, LC
ANTONARAKIS, SE
KAZAZIAN, HH
[J]. NATURE, 1990, 346 (6282) : 366 - 369
[2] 2 PATIENTS WITH CYSTIC-FIBROSIS, NONSENSE MUTATIONS IN EACH CYSTIC-FIBROSIS GENE, AND MILD PULMONARY-DISEASE
CUTTING, GR
KASCH, LM
ROSENSTEIN, BJ
TSUI, LC
KAZAZIAN, HH
ANTONARAKIS, SE
[J]. NEW ENGLAND JOURNAL OF MEDICINE, 1990, 323 (24) : 1685 - 1689
[3] THE RELATION BETWEEN GENOTYPE AND PHENOTYPE IN CYSTIC-FIBROSIS - ANALYSIS OF THE MOST COMMON MUTATION (DELTA-F508)
KEREM, E
COREY, M
KEREM, BS
ROMMENS, J
MARKIEWICZ, D
LEVISON, H
TSUI, LC
DURIE, P
[J]. NEW ENGLAND JOURNAL OF MEDICINE, 1990, 323 (22) : 1517 - 1522