Human genetics: Dissecting Williams syndrome

被引：15

作者：

Monaco, AP

机构：

[1] Wellcome Trust Ctr. for Hum. Genet., University of Oxford, Oxford OX3 7BN, Windmill Road

来源：

CURRENT BIOLOGY | 1996年 / 6卷 / 11期

关键词：

D O I：

10.1016/S0960-9822(96)00740-3

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：

Molecular analysis of a small hemizygous deletion in a patient with partial Williams syndrome suggests that loss of the LIM-Kinase1 gene may be responsible for the impaired visuospatial constructive cognition characteristic of the syndrome.

引用

页码：1396 / 1398

页数：3

共 14 条

[1]

ALBELIOVICH A, 1993, CELL, V75, P1253

[2]

ALBELIOVICH A, 1993, CELL, V75, P1263

[3] Contiguous deletion syndromes [J].

Ballabio, Andrea .

CURRENT OPINION IN GENETICS & DEVELOPMENT, 1991, 1 (01) :25-29

[4]

BERNARD O, 1994, CELL GROWTH DIFFER, V5, P1159

[5] THE ELASTIN GENE IS DISRUPTED BY A TRANSLOCATION ASSOCIATED WITH SUPRAVALVULAR AORTIC-STENOSIS [J].

CURRAN, ME ;

ATKINSON, DL ;

EWART, AK ;

MORRIS, CA ;

LEPPERT, MF ;

KEATING, MT .

CELL, 1993, 73 (01) :159-168

[6] HEMIZYGOSITY AT THE ELASTIN LOCUS IN A DEVELOPMENTAL DISORDER, WILLIAMS-SYNDROME [J].

EWART, AK ;

MORRIS, CA ;

ATKINSON, D ;

JIN, WS ;

STERNES, K ;

SPALLONE, P ;

STOCK, AD ;

LEPPERT, M ;

KEATING, MT .

NATURE GENETICS, 1993, 5 (01) :11-16

[7] LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition [J].

Frangiskakis, JM ;

Ewart, AK ;

Morris, CA ;

Mervis, CB ;

Bertrand, J ;

Robinson, BF ;

Klein, BP ;

Ensing, GJ ;

Everett, LA ;

Green, ED ;

Proschel, C ;

Gutowski, NJ ;

Noble, M ;

Atkinson, DL ;

Odelberg, SJ ;

Keating, MT .

CELL, 1996, 86 (01) :59-69

[8] IMPAIRED LONG-TERM POTENTIATION, SPATIAL-LEARNING, AND HIPPOCAMPAL DEVELOPMENT IN FYN MUTANT MICE [J].

GRANT, SGN ;

ODELL, TJ ;

KARL, KA ;

STEIN, PL ;

SORIANO, P ;

KANDEL, ER .

SCIENCE, 1992, 258 (5090) :1903-1910

[9]

LOWERY MC, 1995, AM J HUM GENET, V57, P49

[10] Position effects and genetic disease [J].

Milot, E ;

Fraser, P ;

Grosveld, F .

TRENDS IN GENETICS, 1996, 12 (04) :123-126

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