A de novo heterozygous deletion of 42 base-pairs in the noggin gene of a fibrodysplasia ossificans progressiva patient

被引:24
作者
Lucotte, G [1 ]
Sémonin, O [1 ]
Lutz, P [1 ]
机构
[1] Ctr Neurogenet Mol, Fac Med, F-51100 Reims, France
关键词
D O I
10.1034/j.1399-0004.1999.560613.x
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:469 / 470
页数:2
相关论文
共 10 条
[1]   Noggin, cartilage morphogenesis, and joint formation in the mammalian skeleton [J].
Brunet, LJ ;
McMahon, JA ;
McMahon, AP ;
Harland, RM .
SCIENCE, 1998, 280 (5368) :1455-1457
[2]  
DALTROFF G, 1992, ARCH FR PEDIATR, V49, P441
[3]   COMPARISON OF 2 METHODS OF HIGH-MOLECULAR-WEIGHT DNA ISOLATION FROM HUMAN-LEUKOCYTES [J].
GAUTREAU, C ;
RAHUEL, C ;
CARTRON, JP ;
LUCOTTE, G .
ANALYTICAL BIOCHEMISTRY, 1983, 134 (02) :320-324
[4]   Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis [J].
Gong, YQ ;
Krakow, D ;
Marcelino, J ;
Wilkin, D ;
Chitayat, D ;
Babul-Hirji, R ;
Hudgins, L ;
Cremers, CW ;
Cremers, FPM ;
Brunner, HG ;
Reinker, K ;
Rimoin, DL ;
Cohn, DH ;
Goodman, FR ;
Reardon, W ;
Patton, M ;
Francomano, CA ;
Warman, ML .
NATURE GENETICS, 1999, 21 (03) :302-304
[5]   THE TGF-BETA SUPERFAMILY - NEW MEMBERS, NEW RECEPTORS, AND NEW GENETIC TESTS OF FUNCTION IN DIFFERENT ORGANISMS [J].
KINGSLEY, DM .
GENES & DEVELOPMENT, 1994, 8 (02) :133-146
[6]  
MCKUSICK VA, 1972, HERITABLE DISORDERS, P687
[7]   Overexpression of an osteogenic morphogen in fibrodysplasia ossificans progressiva [J].
Shafritz, AB ;
Shore, EM ;
Gannon, FH ;
Zasloff, MA ;
Taub, R ;
Muenke, M ;
Kaplan, FS .
NEW ENGLAND JOURNAL OF MEDICINE, 1996, 335 (08) :555-561
[8]  
Smith R, 1996, QJM-INT J MED, V89, P445
[9]  
VALENZUELA DM, 1995, J NEUROSCI, V15, P6077
[10]   The Spemann organizer signal noggin binds and inactivates bone morphogenetic protein 4 [J].
Zimmerman, LB ;
DeJesusEscobar, JM ;
Harland, RM .
CELL, 1996, 86 (04) :599-606