Misdiagnosis revealed by genetic linkage analysis in a family with Wilson disease

被引：9

作者：

Vidaud, D

Assouline, B

Lecoz, P

Cadranel, JF

Chappuis, P

机构：

[1] HOP LARIBOISIERE,LAB CENT BIOCHIM,F-75475 PARIS 10,FRANCE

[2] UNIV PARIS 05,FAC PHARM,PARIS,FRANCE

[3] HOP LARIBOISIERE,SERV NEUROL,F-75475 PARIS,FRANCE

[4] HOP LA PITIE SALPETRIERE,PARIS,FRANCE

来源：

NEUROLOGY | 1996年 / 46卷 / 05期

关键词：

D O I：

10.1212/WNL.46.5.1485

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：1485 / 1486

页数：2

共 6 条

[1] WILSON DISEASE [J].

BREWER, GJ ;

YUZBASIYANGURKAN, V .

MEDICINE, 1992, 71 (03) :139-164

[2] THE WILSON DISEASE GENE IS A PUTATIVE COPPER TRANSPORTING P-TYPE ATPASE SIMILAR TO THE MENKES GENE [J].

BULL, PC ;

THOMAS, GR ;

ROMMENS, JM ;

FORBES, JR ;

COX, DW .

NATURE GENETICS, 1993, 5 (04) :327-337

[3] MAPPING, CLONING AND GENETIC-CHARACTERIZATION OF THE REGION CONTAINING THE WILSON DISEASE GENE [J].

PETRUKHIN, K ;

FISCHER, SG ;

PIRASTU, M ;

TANZI, RE ;

CHERNOV, I ;

DEVOTO, M ;

BRZUSTOWICZ, LM ;

CAYANIS, E ;

VITALE, E ;

RUSSO, JJ ;

MATSEOANE, D ;

BOUKHGALTER, B ;

WASCO, W ;

FIGUS, AL ;

LOUDIANOS, J ;

CAO, A ;

STERNLIEB, I ;

EVGRAFOV, O ;

PARANO, E ;

PAVONE, L ;

WARBURTON, D ;

OTT, J ;

PENCHASZADEH, GK ;

SCHEINBERG, IH ;

GILLIAM, TC .

NATURE GENETICS, 1993, 5 (04) :338-343

[4] PRESYMPTOMATIC TESTING IN FAMILIES WITH WILSONS-DISEASE [J].

SCHWAB, SG ;

SCHERER, J ;

WILDENAUER, DB .

LANCET, 1994, 343 (8913) :1637-1638

[5] THE WILSON-DISEASE GENE - SPECTRUM OF MUTATIONS AND THEIR CONSEQUENCES [J].

THOMAS, GR ;

FORBES, JR ;

ROBERTS, EA ;

WALSHE, JM ;

COX, DW .

NATURE GENETICS, 1995, 9 (02) :210-217

[6]

THOMAS GR, 1994, AM J HUM GENET, V54, P71

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