MALE-INFERTILITY AS THE ONLY PRESENTING SIGN OF CYSTIC-FIBROSIS WHEN HOMOZYGOUS FOR THE MILD MUTATION R117H

被引:22
作者
BIENVENU, T
BELDJORD, C
ADJIMAN, M
KAPLAN, JC
机构
关键词
D O I
10.1136/jmg.30.9.797
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:797 / 797
页数:1
相关论文
共 10 条
[1]   CONGENITAL BILATERAL ABSENCE OF THE VAS-DEFERENS - A PRIMARILY GENITAL FORM OF CYSTIC-FIBROSIS [J].
ANGUIANO, A ;
OATES, RD ;
AMOS, JA ;
DEAN, M ;
GERRARD, B ;
STEWART, C ;
MAHER, TA ;
WHITE, MB ;
MILUNSKY, A .
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 1992, 267 (13) :1794-1797
[2]   MULTIPLE MUTATIONS IN HIGHLY CONSERVED RESIDUES ARE FOUND IN MILDLY AFFECTED CYSTIC-FIBROSIS PATIENTS [J].
DEAN, M ;
WHITE, MB ;
AMOS, J ;
GERRARD, B ;
STEWART, C ;
KHAW, KT ;
LEPPERT, M .
CELL, 1990, 61 (05) :863-870
[3]   ABNORMAL DISTRIBUTION OF CF-DELTA-F508 ALLELE IN AZOOSPERMIC MEN WITH CONGENITAL APLASIA OF EPIDIDYMIS AND VAS-DEFERENS [J].
DUMUR, V ;
GERVAIS, R ;
RIGOT, JM ;
LAFITTE, JJ ;
MANOUVRIER, S ;
BISERTE, J ;
MAZEMAN, E ;
ROUSSEL, P .
LANCET, 1990, 336 (8713) :512-512
[4]  
GERVAIS R, 1993, NEW ENGL J MED, V328, P444
[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]  
Maddalena A., 1992, American Journal of Human Genetics, V51, pA340
[7]  
Mickle J. E., 1992, American Journal of Human Genetics, V51, pA221
[8]  
RIGOT JM, 1991, NEW ENGL J MED, V325, P64
[9]   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
[10]  
1992, LANCET, V339, P1328