Mutations in the human Sonic hedgehog gene cause holoprosencephaly

被引：871

作者：

Roessler, E

Belloni, E

Gaudenz, K

Jay, P

Berta, P

Scherer, SW

Tsui, LC

Muenke, M

机构：

[1] UNIV PENN,CHILDRENS HOSP PHILADELPHIA,SCH MED,DIV HUMAN GENET & MOL BIOL,PHILADELPHIA,PA 19104

[2] UNIV PENN,SCH MED,DEPT PEDIAT,PHILADELPHIA,PA 19104

[3] UNIV PENN,SCH MED,DEPT GENET,PHILADELPHIA,PA 19104

[4] HOSP SICK CHILDREN,DEPT GENET,TORONTO,ON M5G 1X8,CANADA

[5] CTR RECH BIOCHIM MACROMOL,CNRS ERS 155,INSERM,U249,F-34033 MONTPELLIER,FRANCE

来源：

NATURE GENETICS | 1996年 / 14卷 / 03期

关键词：

D O I：

10.1038/ng1196-357

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：357 / 360

页数：4

共 37 条

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[3] Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function
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[8] EKKER SC, 1995, DEVELOPMENT, V121, P2337
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[J]. CELL, 1995, 81 (05) : 747 - 756
[10] LONG-RANGE SCLEROTOME INDUCTION BY SONIC HEDGEHOG - DIRECT ROLE OF THE AMINO-TERMINAL CLEAVAGE PRODUCT AND MODULATION BY THE CYCLIC-AMP SIGNALING PATHWAY
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