MUTATIONS IN THE NORRIE DISEASE GENE - A NEW MUTATION IN A JAPANESE FAMILY

被引：11

作者：

ISASHIKI, Y

OHBA, N

YANAGITA, T

HOKITA, N

HOTTA, Y

HAYAKAWA, M

FUJIKI, K

TANABE, U

机构：

[1] KAGOSHIMA UNIV,FAC MED,DEPT OPHTHALMOL,KAGOSHIMA 890,JAPAN

[2] KAGOSHIMA UNIV,FAC MED,CTR CHRON VIRAL DIS,DIV MOLEC PATHOL & GENET EPIDEMIOL,KAGOSHIMA,JAPAN

[3] JUNTENDO UNIV,SCH MED,DEPT OPHTHALMOL,TOKYO,JAPAN

来源：

BRITISH JOURNAL OF OPHTHALMOLOGY | 1995年 / 79卷 / 07期

关键词：

D O I：

10.1136/bjo.79.7.703

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

引用

页码：703 / 704

页数：2

共 10 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] A MISSENSE POINT MUTATION (LEU13ARG) OF THE NORRIE DISEASE GENE IN A LARGE CUBAN KINDRED WITH NORRIE DISEASE [J].

FUCHS, S ;

XU, SY ;

CABALLERO, M ;

SALCEDO, M ;

LAO, A ;

WEDEMANN, H ;

GAL, A .

HUMAN MOLECULAR GENETICS, 1994, 3 (04) :655-656

[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]

ISASHIKI Y, 1995, HUM GENET, V95, P105

[8] 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

[9]

WARBURG M, 1966, NORRIES DISEASE CONG

[10] IDENTIFICATION OF A NONSENSE MUTATION AT CODON 128 OF THE NORRIES-DISEASE GENE IN A MALE INFANT [J].

WONG, F ;

GOLDBERG, MF ;

HAO, Y .

ARCHIVES OF OPHTHALMOLOGY, 1993, 111 (11) :1553-1557

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