LINKAGE ANALYSIS IN X-LINKED ICHTHYOSIS (STEROID SULFATASE DEFICIENCY)

被引：18

作者：

WIRTH, B

HERRMANN, FH

NEUGEBAUER, M

GILLARD, EF

WULFF, K

STEIN, C

VONFIGURA, K

FERGUSONSMITH, MA

GAL, A

机构：

[1] ERNST MORITZ ARNDT UNIV,INST MED GENET,DDR-2200 GREIFSWALD,GER DEM REP

[2] UNIV BONN,INST MED STAT,D-5300 BONN 1,FED REP GER

[3] UNIV GLASGOW,DUNCAN GUTHRIE INST MED GENET,GLASGOW G3 8SJ,SCOTLAND

[4] UNIV GOTTINGEN,INST BIOCHEM,D-3400 GOTTINGEN,FED REP GER

来源：

HUMAN GENETICS | 1988年 / 80卷 / 02期

关键词：

D O I：

10.1007/BF00702868

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：191 / 192

页数：2

共 14 条

[1] ISOLATION AND CHARACTERIZATION OF A STEROID SULFATASE CDNA CLONE - GENOMIC DELETIONS IN PATIENTS WITH X-CHROMOSOME-LINKED ICHTHYOSIS [J].

BALLABIO, A ;

PARENTI, G ;

CARROZZO, R ;

SEBASTIO, G ;

ANDRIA, G ;

BUCKLE, V ;

FRASER, N ;

CRAIG, I ;

ROCCHI, M ;

ROMEO, G ;

JOBSIS, AC ;

PERSICO, MG .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1987, 84 (13) :4519-4523

[2] CLONING OF A CDNA FOR STEROID SULFATASE - FREQUENT OCCURRENCE OF GENE DELETIONS IN PATIENTS WITH RECESSIVE X-CHROMOSOME-LINKED ICHTHYOSIS [J].

BONIFAS, JM ;

MORLEY, BJ ;

OAKEY, RE ;

KAN, YW ;

EPSTEIN, EH .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1987, 84 (24) :9248-9251

[3] GENETIC-HETEROGENEITY OF STEROID SULFATASE DEFICIENCY REVEALED WITH CDNA FOR HUMAN STEROID SULFATASE [J].

CONARY, JT ;

LORKOWSKI, G ;

SCHMIDT, B ;

POHLMANN, R ;

NAGEL, G ;

MEYER, HE ;

KRENTLER, C ;

CULLY, J ;

HASILIK, A ;

VONFIGURA, K .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1987, 144 (02) :1010-1017

[4] REPORT OF THE COMMITTEE ON THE GENETIC CONSTITUTION OF THE X-CHROMOSOMES AND Y-CHROMOSOMES [J].

DAVIES, KE ;

MANDEL, JL ;

WEISSENBACH, J ;

FELLOUS, M .

CYTOGENETICS AND CELL GENETICS, 1987, 46 (1-4) :277-315

[5] PROBABILISTIC CLASSIFICATION OF HEMOPHILIA-A CARRIERS BY DISCRIMINANT-ANALYSIS [J].

ELSTON, RC ;

GRAHAM, JB ;

MILLER, CH ;

REISNER, HM ;

BOUMA, BN .

THROMBOSIS RESEARCH, 1976, 8 (05) :683-695

[6] X-LINKED DOMINANT CHARCOT-MARIE-TOOTH DISEASE - SUGGESTION OF LINKAGE WITH A CLONED DNA-SEQUENCE FROM THE PROXIMAL XQ [J].

GAL, A ;

MUCKE, J ;

THEILE, H ;

WIEACKER, PF ;

ROPERS, HH ;

WIENKER, TF .

HUMAN GENETICS, 1985, 70 (01) :38-42

[7] DELETION OF A DNA-SEQUENCE IN 8 OF 9 FAMILIES WITH X-LINKED ICHTHYOSIS (STEROID SULFATASE DEFICIENCY) [J].

GILLARD, EF ;

AFFARA, NA ;

YATES, JRW ;

GOUDIE, DR ;

LAMBERT, J ;

AITKEN, DA ;

FERGUSONSMITH, MA .

NUCLEIC ACIDS RESEARCH, 1987, 15 (10) :3977-3985

[8] ARYLSULFATASE-C ACTIVITY IN LEUKOCYTES OF PATIENTS AND CARRIERS OF X-LINKED ICHTHYOSIS [J].

HERRMANN, FH ;

GRIMM, U ;

HADLICH, J .

JOURNAL OF INHERITED METABOLIC DISEASE, 1987, 10 (01) :89-94

[9] REGIONAL ASSIGNMENT OF THE GENE LOCUS FOR STEROID SULFATASE [J].

MULLER, CR ;

WESTERVELD, A ;

MIGL, B ;

FRANKE, W ;

ROPERS, HH .

HUMAN GENETICS, 1980, 54 (02) :201-204

[10]

NEUGEBAUER M, 1984, HISTOCOMPATIBILITY T, P52

← 1 2 →