A POINT MUTATION IN A TYPE-I PROCOLLAGEN GENE CONVERTS GLYCINE-748 OF THE ALPHA-1 CHAIN TO CYSTEINE AND DESTABILIZES THE TRIPLE HELIX IN A LETHAL VARIANT OF OSTEOGENESIS IMPERFECTA

被引:0
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作者
VOGEL, BE
MINOR, RR
FREUND, M
PROCKOP, DJ
机构
[1] THOMAS JEFFERSON UNIV,JEFFERSON MED COLL,JEFFERSON INST MOLEC MED,DEPT BIOCHEM & MOLEC BIOL,PHILADELPHIA,PA 19107
[2] CORNELL UNIV,NEW YORK STATE COLL VET MED,DEPT PATHOL,ITHACA,NY 14853
[3] CATHOLIC UNIV LOUVAIN,B-1200 BRUSSELS,BELGIUM
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D O I
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中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
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页码:14737 / 14744
页数:8
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