DOWN-SYNDROME WITH DUPLICATION OF A REGION OF CHROMOSOME-21 CONTAINING THE CUZN SUPEROXIDE-DISMUTASE GENE WITHOUT DETECTABLE KARYOTYPIC ABNORMALITY

被引：53

作者：

HURET, JL

DELABAR, JM

MARLHENS, F

AURIAS, A

NICOLE, A

BERTHIER, M

TANZER, J

SINET, PM

机构：

[1] HOP NECKER ENFANTS MALAD,BIOCHEM GENET LAB,149 RUE SEVRES,F-75743 PARIS 15,FRANCE

[2] INST CURIE,CNRS,UNITE 620,F-75231 PARIS 05,FRANCE

[3] CTR HOSP REG UNIV LA MILETRIE,HEMATOL LAB,F-86021 POITIERS,FRANCE

来源：

关键词：

D O I：

10.1007/BF00281069

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：251 / 257

页数：7

共 23 条

[1] AULA P, 1973, CLIN GENET, V4, P241
[2] SUPEROXIDE DISMUTASE - IMPROVED ASSAYS AND AN ASSAY APPLICABLE TO ACRYLAMIDE GELS
BEAUCHAM.C
FRIDOVIC.I
[J]. ANALYTICAL BIOCHEMISTRY, 1971, 44 (01) : 276 - &
[3] EVIDENCE FOR A CORRELATION BETWEEN LATE REPLICATION AND AUTOSOMAL GENE INACTIVATION IN A FAMILIAL TRANSLOCATION T(X-21)
COUTURIER, J
DUTRILLAUX, B
GARBER, P
RAOUL, O
CROQUETTE, MF
FOURLINNIE, JC
MAILLARD, E
[J]. HUMAN GENETICS, 1979, 49 (03) : 319 - 326
[4] CRIPPA L, 1984, ANN GENET-PARIS, V27, P190
[5] FEINBERG AP, 1984, ANAL BIOCHEM, V137, P266
[6] FEINBERG AP, 1984, ANAL BIOCHEM, V132, P6
[7] MODERATE DOWNS-SYNDROME IN 3 SIBLINGS HAVING PARTIAL TRISOMY 21Q22.2-]QTER AND THEREFORE NO SOD-1 EXCESS
HABEDANK, M
RODEWALD, A
[J]. HUMAN GENETICS, 1982, 60 (01) : 74 - 77
[8] JENKINS EC, 1983, CLIN GENET, V24, P97
[9] SOD-A AND CHROMOSOME-21 - CONFLICTING FINDINGS IN A FAMILIAL TRANSLOCATION (9P24-21Q214)
LESCHOT, NJ
SLATER, RM
JOENJE, H
BECKERBLOEMKOLK, MJ
DENEF, JJ
[J]. HUMAN GENETICS, 1981, 57 (02) : 220 - 223
[10] HUMAN CYTOPLASMIC SUPEROXIDE-DISMUTASE CDNA CLONE - A PROBE FOR STUDYING THE MOLECULAR-BIOLOGY OF DOWN SYNDROME
LIEMANHURWITZ, J
DAFNI, N
LAVIE, V
GRONER, Y
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1982, 79 (09): : 2808 - 2811