MISSENSE MUTATION (ARG121TRP) IN THE NORRIE DISEASE GENE ASSOCIATED WITH X-LINKED EXUDATIVE VITREORETINOPATHY

被引：29

作者：

FUCHS, S ^{[1
]}

KELLNER, U ^{[1
]}

WEDEMANN, H ^{[1
]}

GAL, A ^{[1
]}

机构：

[1] FREE UNIV BERLIN,KLINIKUM BENJAMIN FRANKLIN,AUGENKLIN & POLIKLIN,D-12200 BERLIN,GERMANY

来源：

HUMAN MUTATION | 1995年 / 6卷 / 03期

关键词：

D O I：

10.1002/humu.1380060312

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：257 / 259

页数：3

共 12 条

[1] ISOLATION OF A CANDIDATE GENE FOR NORRIE DISEASE BY POSITIONAL CLONING
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
[J]. NATURE GENETICS, 1992, 1 (03) : 199 - 203
[2] COMPUTER-PROGRAM (CHMASS) FOR CALCULATING THEORETICAL CHARACTERISTIC MASS VALUES IN ELECTROTHERMAL ATOMIC-ABSORPTION SPECTROMETRY
BERGLUND, M
BAXTER, DC
[J]. JOURNAL OF ANALYTICAL ATOMIC SPECTROMETRY, 1992, 7 (02) : 461 - 470
[3] A MUTATION IN THE NORRIE DISEASE GENE (NDP) ASSOCIATED WITH X-LINKED FAMILIAL EXUDATIVE VITREORETINOPATHY
CHEN, ZY
BATTINELLI, EM
FIELDER, A
BUNDEY, S
SIMS, K
BREAKEFIELD, XO
CRAIG, IW
[J]. NATURE GENETICS, 1993, 5 (02) : 180 - 183
[4] ISOLATION AND CHARACTERIZATION OF A CANDIDATE GENE FOR NORRIE DISEASE
CHEN, ZY
HENDRIKS, RW
JOBLING, MA
POWELL, JF
BREAKEFIELD, XO
SIMS, KB
CRAIG, IW
[J]. NATURE GENETICS, 1992, 1 (03) : 204 - 208
[5] FAMILIAL EXUDATIVE VITREORETINOPATHY
CRISWICK, VG
SCHEPENS, CL
[J]. AMERICAN JOURNAL OF OPHTHALMOLOGY, 1969, 68 (04) : 578 - &
[6] IDENTIFICATION OF 2 NEW MISSENSE MUTATIONS (K58N AND R121Q) IN THE NORRIE DISEASE (ND) GENE IN 2 SPANISH FAMILIES
FUENTES, JJ
VOLPINI, V
FERNANDEZTORAL, F
COTO, E
ESTIVILL, X
[J]. HUMAN MOLECULAR GENETICS, 1993, 2 (11) : 1953 - 1955
[7] X-LINKED EXUDATIVE VITREORETINOPATHY - CLINICAL-FEATURES AND GENETIC-LINKAGE ANALYSIS
FULLWOOD, P
JONES, J
BUNDEY, S
DUDGEON, J
FIELDER, AR
KILPATRICK, MW
[J]. BRITISH JOURNAL OF OPHTHALMOLOGY, 1993, 77 (03) : 168 - 170
[8] PRIMARY RETINAL DYSPLASIA TRANSMITTED AS X-CHROMOSOME-LINKED RECESSIVE DISORDER
GODEL, V
ROMANO, A
STEIN, R
ADAM, A
GOODMAN, RM
[J]. AMERICAN JOURNAL OF OPHTHALMOLOGY, 1978, 86 (02) : 221 - &
[9] NORRIE DISEASE IS CAUSED BY MUTATIONS IN AN EXTRACELLULAR PROTEIN RESEMBLING C-TERMINAL GLOBULAR DOMAIN OF MUCINS
MEINDL, A
BERGER, W
MEITINGER, T
VANDEPOL, D
ACHATZ, H
DORNER, C
HAASEMANN, M
HELLEBRAND, H
GAL, A
CREMERS, F
ROPERS, HH
[J]. NATURE GENETICS, 1992, 2 (02) : 139 - 143
[10] MOLECULAR MODELING OF THE NORRIE DISEASE PROTEIN PREDICTS A CYSTINE KNOT GROWTH-FACTOR TERTIARY STRUCTURE
MEITINGER, T
MEINDL, A
BORK, P
ROST, B
SANDER, C
HAASEMANN, M
MURKEN, J
[J]. NATURE GENETICS, 1993, 5 (04) : 376 - 380

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