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

[11]

LERMAN LS, 1987, METHOD ENZYMOL, V155, P482

[12] DETECTION OF POLYMORPHISMS OF HUMAN DNA BY GEL-ELECTROPHORESIS AS SINGLE-STRAND CONFORMATION POLYMORPHISMS [J].

ORITA, M ;

IWAHANA, H ;

KANAZAWA, H ;

HAYASHI, K ;

SEKIYA, T .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1989, 86 (08) :2766-2770

[13]

PROCKOP DJ, 1992, NEW ENGL J MED, V326, P540

[14] CLINICAL CORRELATIONS OF OSTEOARTHRITIS ASSOCIATED WITH A SINGLE-BASE MUTATION (ARGININE(519) TO CYSTEINE) IN TYPE-II PROCOLLAGEN GENE A NEWLY DEFINED PATHOGENESIS [J].

PUN, YL ;

MOSKOWITZ, RW ;

LIE, ST ;

SUNDSTROM, WR ;

BLOCK, SR ;

MCEWEN, C ;

WILLIAMS, HJ ;

BLEASEL, JF ;

HOLDERBAUM, D ;

HAQQI, TM .

ARTHRITIS AND RHEUMATISM, 1994, 37 (02) :264-269

[15] A 4TH EXAMPLE SUGGESTS THAT PREMATURE TERMINATION CODONS IN THE COL2A1 GENE ARE A COMMON-CAUSE OF THE STICKLER SYNDROME - ANALYSIS OF THE COL2A1 GENE BY DENATURING GRADIENT GEL-ELECTROPHORESIS [J].

RITVANIEMI, P ;

HYLAND, J ;

IGNATIUS, J ;

KIVIRIKKO, KI ;

PROCKOP, DJ ;

ALAKOKKO, L .

GENOMICS, 1993, 17 (01) :218-221

[16]

Williams Charlene J., 1992, Human Mutation, V1, P403, DOI 10.1002/humu.1380010510

[17] SPONDYLOEPIPHYSEAL DYSPLASIA AND PRECOCIOUS OSTEOARTHRITIS IN A FAMILY WITH AN ARG(75)-]CYS MUTATION IN THE PROCOLLAGEN TYPE-II GENE (COL2A1) [J].

WILLIAMS, CJ ;

CONSIDINE, EL ;

KNOWLTON, RG ;

REGINATO, A ;

NEUMANN, G ;

HARRISON, D ;

BUXTON, P ;

JIMENEZ, S ;

PROCKOP, DJ .

HUMAN GENETICS, 1993, 92 (05) :499-505

← 1 2 →