STOP CODON FGFR3 MUTATIONS IN THANATOPHORIC DWARFISM TYPE-1

被引:161
作者
ROUSSEAU, F
SAUGIER, P
LEMERRER, M
MUNNICH, A
DELEZOIDE, AL
MAROTEAUX, P
BONAVENTURE, J
NARCY, F
SANAK, M
机构
[1] HOP NECKER ENFANTS MALAD, CNRS,ER 88,INSERM,U393, UNITE RECH HANDICAPS GENET ENFANT, F-75743 PARIS 15, FRANCE
[2] HOP COCHIN, SERV FOETOPATHOL, F-75014 PARIS, FRANCE
[3] POLISH AMER CHILDRENS HOSP, DEPT MED GENET, KRAKOW, POLAND
关键词
D O I
10.1038/ng0595-11
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
[No abstract available]
引用
收藏
页码:11 / 12
页数:2
相关论文
共 11 条
[1]  
Maroteaux P., Lamy M., Robert J.M., Presse Medicate, 75, pp. 2519-2524, (1967)
[2]  
Spranger J., Maroteaux P., Adv. hum. Genet, 19, pp. 1-103, (1990)
[3]  
Langer L.O., Et al., Am. J. med. Genet, 3, pp. 167-169, (1987)
[4]  
Shiang R., Et al., Cell, 78, pp. 335-342, (1994)
[5]  
Rousseau F., Et al., Nature, 371, pp. 252-254, (1994)
[6]  
Tavormina P.L., Et al., Nature Genet, 9, pp. 321-328, (1995)
[7]  
Ullrioh A., Schlessinger J., Cell, 61, pp. 203-212, (1990)
[8]  
Wilkie A.O.M., Et al., Nature Genet, 9, pp. 165-172, (1995)
[9]  
Clegg J.B., Weatherall D.J., Milner P.F., Nature, 234, pp. 337-340, (1971)
[10]  
Partanen J., Et al., EMBO J, 10, pp. 1347-1354, (1991)