ISOLATION AND CHARACTERIZATION OF A STEROID SULFATASE CDNA CLONE - GENOMIC DELETIONS IN PATIENTS WITH X-CHROMOSOME-LINKED ICHTHYOSIS

被引：137

作者：

BALLABIO, A

PARENTI, G

CARROZZO, R

SEBASTIO, G

ANDRIA, G

BUCKLE, V

FRASER, N

CRAIG, I

ROCCHI, M

ROMEO, G

JOBSIS, AC

PERSICO, MG

机构：

[1] INT INST GENET & BIOPHYS,VIA G MARCONI 10,I-80125 NAPLES,ITALY

[2] UNIV NAPLES,FAC MED 2,DEPT PAEDIAT,I-80138 NAPLES,ITALY

[3] UNIV REGGIO,DEPT PAEDIAT,CALABRIA,ITALY

[4] UNIV OXFORD,GENET LAB,OXFORD,ENGLAND

[5] GASLINI INST,GENOA,ITALY

[6] UNIV AMSTERDAM,ACAD MED CTR,AMSTERDAM,NETHERLANDS

来源：

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA | 1987年 / 84卷 / 13期

关键词：

D O I：

10.1073/pnas.84.13.4519

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

引用

页码：4519 / 4523

页数：5

共 31 条

[1] X-LINKED ICHTHYOSIS, DUE TO STEROID SULFATASE DEFICIENCY, ASSOCIATED WITH KALLMANN SYNDROME (HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA) - LINKAGE RELATIONSHIPS WITH XG AND CLONED DNA-SEQUENCES FROM THE DISTAL SHORT ARM OF THE X-CHROMOSOME
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MONDELLO, C
DIMAIO, S
TENORE, A
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[J]. HUMAN GENETICS, 1986, 72 (03) : 237 - 240
[2] GENETIC COMPLEMENTATION OF STEROID SULFATASE AFTER SOMATIC-CELL HYBRIDIZATION OF X-LINKED ICHTHYOSIS AND MULTIPLE SULFATASE DEFICIENCY
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[J]. HUMAN GENETICS, 1985, 70 (04) : 315 - 317
[3] BOYD Y, 1987, CLIN GENET, V31, P265
[4] HOMOLOGOUS EXPRESSED GENES IN THE HUMAN SEX-CHROMOSOME PAIRING REGION
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[J]. NATURE, 1985, 317 (6039) : 739 - 741
[5] LOCALIZATION OF Y-CHROMOSOME SEQUENCES IN NORMAL AND XX-MALES
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GOODFELLOW, PN
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WOLFE, J
CRAIG, IW
[J]. JOURNAL OF MEDICAL GENETICS, 1987, 24 (04) : 197 - 203
[6] STEROID SULFATASE AND THE CONSERVATION OF MAMMALIAN X-CHROMOSOMES
CRAIG, IW
TOLLEY, E
[J]. TRENDS IN GENETICS, 1986, 2 (08) : 201 - 204
[7] INHERITED CHONDRODYSPLASIA PUNCTATA DUE TO A DELETION OF THE TERMINAL SHORT ARM OF AN X-CHROMOSOME
CURRY, CJR
MAGENIS, RE
BROWN, M
LANMAN, JT
TSAI, J
OLAGUE, P
GOODFELLOW, P
MOHANDAS, T
BERGNER, EA
SHAPIRO, LJ
[J]. NEW ENGLAND JOURNAL OF MEDICINE, 1984, 311 (16) : 1010 - 1015
[8] RECESSIVE X-LINKED ICHTHYOSIS - LACK OF IMMUNOLOGICALLY DETECTABLE STEROID SULFATASE ENZYME PROTEIN
EPSTEIN, EH
BONIFAS, JM
[J]. HUMAN GENETICS, 1985, 71 (03) : 201 - 205
[9] GOODFELLOW P, 1984, AM J HUM GENET, V36, P777
[10] X-LINKAGE OF STEROID SULFATASE IN THE MOUSE IS EVIDENCE FOR A FUNCTIONAL Y-LINKED ALLELE
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RIVEST, M
SINISCALCO, M
GARTLER, SM
[J]. NATURE, 1985, 315 (6016) : 226 - 227

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