COMPOUND HETEROZYGOSITY FOR DELTA-F508 AND F508C - A CAUTIONARY NOTE ON THE MOLECULAR DIAGNOSIS OF CYSTIC-FIBROSIS

被引：2

作者：

DUFOURCQ, R

VUILLAUMIER, S

PASCAUD, O

GUIDAL, C

OURY, JF

ELION, J

DENAMUR, E

机构：

来源：

PRENATAL DIAGNOSIS | 1994年 / 14卷 / 12期

关键词：

D O I：

10.1002/pd.1970141216

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：1176 / 1177

页数：2

共 9 条

[1]

CHEHAB FF, 1992, HUM GENET, V89, P163

[2]

DESGEORGES M, 1994, AM J HUM GENET, V54, P384

[3]

FUJIMURA FK, 1990, NEW ENGL J MED, V322, P61

[4]

Kalin N, 1992, Hum Mutat, V1, P204, DOI 10.1002/humu.1380010305

[5] 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

[6] 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

[7]

KOBAYASHI K, 1990, AM J HUM GENET, V47, P611

[8]

MACEK M, 1992, AM J HUM GENET, V51, P1173

[9]

MESCHEDE D, 1993, AM J HUM GENET, V53, P292

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