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：

来源：

JOURNAL OF MEDICAL GENETICS | 1993年 / 30卷 / 09期

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
ANGUIANO, A
OATES, RD
AMOS, JA
DEAN, M
GERRARD, B
STEWART, C
MAHER, TA
WHITE, MB
MILUNSKY, A
[J]. 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
DEAN, M
WHITE, MB
AMOS, J
GERRARD, B
STEWART, C
KHAW, KT
LEPPERT, M
[J]. 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
DUMUR, V
GERVAIS, R
RIGOT, JM
LAFITTE, JJ
MANOUVRIER, S
BISERTE, J
MAZEMAN, E
ROUSSEL, P
[J]. 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
KEREM, BS
ROMMENS, JM
BUCHANAN, JA
MARKIEWICZ, D
COX, TK
CHAKRAVARTI, A
BUCHWALD, M
TSUI, LC
[J]. 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
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
[J]. SCIENCE, 1989, 245 (4922) : 1059 - 1065
[10] 1992, LANCET, V339, P1328