3 NEW POINT MUTATIONS IN TYPE-II PROCOLLAGEN (COL2A1) AND IDENTIFICATION OF A 4TH FAMILY WITH THE COL2A1 ARG519-]CYS BASE SUBSTITUTION USING CONFORMATION SENSITIVE GEL-ELECTROPHORESIS

被引：65

作者：

WILLIAMS, CJ

ROCK, M

CONSIDINE, E

MCCARRON, S

GOW, P

LADDA, R

MCLAIN, D

MICHELS, VM

MURPHY, W

PROCKOP, DJ

GANGULY, A

机构：

[1] THOMAS JEFFERSON UNIV,INST MOLEC MED,DEPT BIOCHEM & MOLEC BIOL,PHILADELPHIA,PA 19107

[2] MIDDLEMORE HOSP,DEPT RHEUMATOL,AUCKLAND 6,NEW ZEALAND

[3] PENN STATE UNIV,MILTON S HERSHEY MED CTR,DEPT PEDIAT,DIV GENET,HERSHEY,PA 17033

[4] BIRMINGHAM RHEUMATOL,BIRMINGHAM,AL 35209

[5] MAYO CLIN & MAYO FDN,DEPT MED GENET,ROCHESTER,MN 55905

[6] UNIV TEXAS,MD ANDERSON CANC CTR,DIV DIAGNOST IMAGING,HOUSTON,TX 77030

来源：

HUMAN MOLECULAR GENETICS | 1995年 / 4卷 / 02期

关键词：

D O I：

10.1093/hmg/4.2.309

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：

引用

页码：309 / 312

页数：4

共 17 条

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