MISSENSE MUTATIONS IN THE NDP GENE IN PATIENTS WITH A LESS SEVERE COURSE OF NORRIE DISEASE

被引：50

作者：

MEINDL, A

LORENZ, B

ACHATZ, H

HELLEBRAND, H

SCHMITZVALCKENBERG, P

MEITINGER, T

机构：

[1] UNIV REGENSBURG,AUGENKLIN,W-8400 REGENSBURG,GERMANY

[2] EVANGEL STIFTSKRANKENHAUS,KOBLENZ,GERMANY

来源：

HUMAN MOLECULAR GENETICS | 1995年 / 4卷 / 03期

关键词：

D O I：

10.1093/hmg/4.3.489

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

引用

页码：489 / 490

页数：2

共 14 条

[1] ISOLATION OF A CANDIDATE GENE FOR NORRIE DISEASE BY POSITIONAL CLONING [J].

BERGER, W ;

MEINDL, A ;

VANDEPOL, TJR ;

CREMERS, FPM ;

ROPERS, HH ;

DOERNER, C ;

MONACO, A ;

BERGEN, AAB ;

LEBO, R ;

WARBURG, M ;

ZERGOLLERN, L ;

LORENZ, B ;

GAL, A ;

BLEEKERWAGEMAKERS, EM ;

MEITINGER, T .

NATURE GENETICS, 1992, 1 (03) :199-203

[2] MUTATIONS IN THE CANDIDATE GENE FOR NORRIE DISEASE [J].

BERGER, W ;

VANDEPOL, D ;

WARBURG, M ;

GAL, A ;

BLEEKERWAGEMAKERS, L ;

DESILVA, H ;

MEINDL, A ;

MEITINGER, T ;

CREMERS, F ;

ROPERS, HH .

HUMAN MOLECULAR GENETICS, 1992, 1 (07) :461-465

[3] A MUTATION IN THE NORRIE DISEASE GENE (NDP) ASSOCIATED WITH X-LINKED FAMILIAL EXUDATIVE VITREORETINOPATHY [J].

CHEN, ZY ;

BATTINELLI, EM ;

FIELDER, A ;

BUNDEY, S ;

SIMS, K ;

BREAKEFIELD, XO ;

CRAIG, IW .

NATURE GENETICS, 1993, 5 (02) :180-183

[4] ISOLATION AND CHARACTERIZATION OF A CANDIDATE GENE FOR NORRIE DISEASE [J].

CHEN, ZY ;

HENDRIKS, RW ;

JOBLING, MA ;

POWELL, JF ;

BREAKEFIELD, XO ;

SIMS, KB ;

CRAIG, IW .

NATURE GENETICS, 1992, 1 (03) :204-208

[5]

FUCHS S, 1994, IN PRESS HUM MUTAT

[6] IDENTIFICATION OF 2 NEW MISSENSE MUTATIONS (K58N AND R121Q) IN THE NORRIE DISEASE (ND) GENE IN 2 SPANISH FAMILIES [J].

FUENTES, JJ ;

VOLPINI, V ;

FERNANDEZTORAL, F ;

COTO, E ;

ESTIVILL, X .

HUMAN MOLECULAR GENETICS, 1993, 2 (11) :1953-1955

[7]

GODEL V, 1981, CLIN GENET, V20, P260

[8]

JOHNSON K, 1994, AM J HUM GENET S, V55

[9] NORRIE DISEASE IS CAUSED BY MUTATIONS IN AN EXTRACELLULAR PROTEIN RESEMBLING C-TERMINAL GLOBULAR DOMAIN OF MUCINS [J].

MEINDL, A ;

BERGER, W ;

MEITINGER, T ;

VANDEPOL, D ;

ACHATZ, H ;

DORNER, C ;

HAASEMANN, M ;

HELLEBRAND, H ;

GAL, A ;

CREMERS, F ;

ROPERS, HH .

NATURE GENETICS, 1992, 2 (02) :139-143

[10] MOLECULAR MODELING OF THE NORRIE DISEASE PROTEIN PREDICTS A CYSTINE KNOT GROWTH-FACTOR TERTIARY STRUCTURE [J].

MEITINGER, T ;

MEINDL, A ;

BORK, P ;

ROST, B ;

SANDER, C ;

HAASEMANN, M ;

MURKEN, J .

NATURE GENETICS, 1993, 5 (04) :376-380

← 1 2 →