A CYSTIC-FIBROSIS PATIENT HOMOZYGOUS FOR THE NONSENSE MUTATION R553X

被引：25
作者：
BAL, J
STUHRMANN, M
SCHLOESSER, M
SCHMIDTKE, J
REISS, J
机构：
[1] UNIV GOTTINGEN,INST HUMAN GENET,GOSSLERSTR 12D,W-3400 GOTTINGEN,GERMANY
[2] MED HSCH HANNOVER,DEPT HUMAN GENET,W-3000 HANNOVER 61,GERMANY
来源：
JOURNAL OF MEDICAL GENETICS | 1991年 / 28卷 / 10期
关键词：
D O I：
10.1136/jmg.28.10.715
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
A cystic fibrosis patient homozygous for the nonsense mutation R553X was identified by mutation screening and the genotype confirmed by DNA sequencing. This patient, the only one described to date who is homozygous for this stop condon in exon 11 of the CFTR gene, is moderately severely affected. Clinical and molecular findings are presented.
引用
收藏
页码：715 / 717
页数：3
相关论文
共 8 条
[1]   A CHILD, HOMOZYGOUS FOR A STOP CODON IN EXON-11, SHOWS MILDER CYSTIC-FIBROSIS SYMPTOMS THAN HER HETEROZYGOUS NEPHEW [J].
CUPPENS, H ;
MARYNEN, P ;
DEBOECK, C ;
DEBAETS, F ;
EGGERMONT, E ;
VANDENBERGHE, H ;
CASSIMAN, JJ .
JOURNAL OF MEDICAL GENETICS, 1990, 27 (11) :717-719
[2]   A CLUSTER OF CYSTIC-FIBROSIS MUTATIONS IN THE 1ST NUCLEOTIDE-BINDING FOLD OF THE CYSTIC-FIBROSIS CONDUCTANCE REGULATOR PROTEIN [J].
CUTTING, GR ;
KASCH, LM ;
ROSENSTEIN, BJ ;
ZIELENSKI, J ;
TSUI, LC ;
ANTONARAKIS, SE ;
KAZAZIAN, HH .
NATURE, 1990, 346 (6282) :366-369
[3]   2 PATIENTS WITH CYSTIC-FIBROSIS, NONSENSE MUTATIONS IN EACH CYSTIC-FIBROSIS GENE, AND MILD PULMONARY-DISEASE [J].
CUTTING, GR ;
KASCH, LM ;
ROSENSTEIN, BJ ;
TSUI, LC ;
KAZAZIAN, HH ;
ANTONARAKIS, SE .
NEW ENGLAND JOURNAL OF MEDICINE, 1990, 323 (24) :1685-1689
[4]   IDENTIFICATION OF MUTATIONS IN REGIONS CORRESPONDING TO THE 2 PUTATIVE NUCLEOTIDE (ATP)-BINDING FOLDS OF THE CYSTIC-FIBROSIS GENE [J].
KEREM, BS ;
ZIELENSKI, J ;
MARKIEWICZ, D ;
BOZON, D ;
GAZIT, E ;
YAHAV, J ;
KENNEDY, D ;
RIORDAN, JR ;
COLLINS, FS ;
ROMMENS, JM ;
TSUI, LC .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1990, 87 (21) :8447-8451
[5]   IDENTIFICATION OF THE CYSTIC-FIBROSIS GENE - GENETIC-ANALYSIS [J].
KEREM, BS ;
ROMMENS, JM ;
BUCHANAN, JA ;
MARKIEWICZ, D ;
COX, TK ;
CHAKRAVARTI, A ;
BUCHWALD, M ;
TSUI, LC .
SCIENCE, 1989, 245 (4922) :1073-1080
[6]  
RIORDAN JR, 1989, SCIENCE, V245, P1066
[7]   IDENTIFICATION OF THE CYSTIC-FIBROSIS GENE - CHROMOSOME WALKING AND JUMPING [J].
ROMMENS, JM ;
IANNUZZI, MC ;
KEREM, BS ;
DRUMM, ML ;
MELMER, G ;
DEAN, M ;
ROZMAHEL, R ;
COLE, JL ;
KENNEDY, D ;
HIDAKA, N ;
ZSIGA, M ;
BUCHWALD, M ;
RIORDAN, JR ;
TSUI, LC ;
COLLINS, FS .
SCIENCE, 1989, 245 (4922) :1059-1065
[8]  
1990, HUM GENET, V85, P436
1