ADRENOLEUKODYSTROPHY - EVIDENCE FOR X LINKAGE, INACTIVATION, AND SELECTION FAVORING THE MUTANT ALLELE IN HETEROZYGOUS CELLS

被引:268
作者
MIGEON, BR
MOSER, HW
MOSER, AB
AXELMAN, J
SILLENCE, D
NORUM, RA
机构
[1] JOHNS HOPKINS UNIV, SCH MED, JOHN F KENNEDY INST, BALTIMORE, MD 21205 USA
[2] UNIV CALIF LOS ANGELES, HARBOR MED CTR, TORRANCE, CA 90509 USA
[3] HENRY FORD HOSP, DETROIT, MI 48202 USA
来源
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES | 1981年 / 78卷 / 08期
关键词
D O I
10.1073/pnas.78.8.5066
中图分类号
Q [生物科学];
学科分类号
07 ; 0710 ; 09 ;
摘要
引用
收藏
页码:5066 / 5070
页数:5
相关论文
共 18 条
[1]   ADRENOLEUKODYSTROPHY AND ADRENOMYELONEUROPATHY ASSOCIATED WITH PARTIAL ADRENAL INSUFFICIENCY IN 3 GENERATIONS OF A KINDRED [J].
DAVIS, LE ;
SNYDER, RD ;
ORTH, DN ;
NICHOLSON, WE ;
KORNFELD, M ;
SEELINGER, DF .
AMERICAN JOURNAL OF MEDICINE, 1979, 66 (02) :342-347
[2]  
GEALY WJ, 1980, LANCET, V1, P601
[3]   ADRENOMYELONEUROPATHY - PROBABLE VARIANT OF ADRENOLEUKODYSTROPHY .1. CLINICAL AND ENDOCRINOLOGIC ASPECTS [J].
GRIFFIN, JW ;
GOREN, E ;
SCHAUMBURG, H ;
ENGEL, WK ;
LORIAUX, L .
NEUROLOGY, 1977, 27 (12) :1107-1113
[4]   HIGH-CONCENTRATION OF HEXACOSANOATE IN CULTURED SKIN FIBROBLAST LIPIDS FROM ADRENOLEUKODYSTROPHY PATIENTS [J].
KAWAMURA, N ;
MOSER, AB ;
MOSER, HW ;
OGINO, T ;
SUZUKI, K ;
SCHAUMBURG, H ;
MILUNSKY, A ;
MURPHY, J ;
KISHIMOTO, Y .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1978, 82 (01) :114-120
[5]   IMBALANCE IN X-CHROMOSOME EXPRESSION - EVIDENCE FOR A HUMAN X-LINKED GENE AFFECTING GROWTH OF HEMATOPOIETIC-CELLS [J].
LUZZATTO, L ;
USANGA, EA ;
BIENZLE, U ;
ESAN, GFJ ;
FASUAN, FA .
SCIENCE, 1979, 205 (4413) :1418-1420
[6]  
LYON MF, 1972, BIOL REV, V47, P1
[7]  
MEYER WJ, 1975, P NATL ACAD SCI USA, V72, P1469, DOI 10.1073/pnas.72.4.1469
[8]  
MIGEON BR, 1978, GENETIC MOSAICS CHIM, P417
[9]  
MOSER HW, 1980, JOHNS HOPKINS MED J, V147, P217
[10]   ADRENOLEUKODYSTROPHY - ELEVATED C26 FATTY-ACID IN CULTURED SKIN FIBROBLASTS [J].
MOSER, HW ;
MOSER, AB ;
KAWAMURA, N ;
MURPHY, J ;
SUZUKI, K ;
SCHAUMBURG, H ;
KISHIMOTO, Y .
ANNALS OF NEUROLOGY, 1980, 7 (06) :542-549