NOVEL FRAMESHIFT MUTATIONS IN THE PROCOLLAGEN-2 GENE (COL2A1) ASSOCIATED WITH STICKLER SYNDROME (HEREDITARY ARTHROOPHTHALMOPATHY)

被引：27

作者：

BROWN, DM

VANDENBURGH, K

KIMURA, AE

WEINGEIST, TA

SHEFFIELD, VC

STONE, EM

机构：

[1] UNIV IOWA,COLL MED,DEPT OPHTHALMOL,IOWA CITY,IA 52242

[2] UNIV IOWA,COLL MED,DEPT PEDIAT,IOWA CITY,IA 52242

来源：

HUMAN MOLECULAR GENETICS | 1995年 / 4卷 / 01期

关键词：

D O I：

10.1093/hmg/4.1.141

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：

[No abstract available]

引用

页码：141 / 142

页数：2

共 14 条

[1] STOP CODON IN THE PROCOLLAGEN-II GENE (COL2A1) IN A FAMILY WITH THE STICKLER SYNDROME (ARTHROOPHTHALMOPATHY) [J].

AHMAD, NN ;

ALAKOKKO, L ;

KNOWLTON, RG ;

JIMENEZ, SA ;

WEAVER, EJ ;

MAGUIRE, JI ;

TASMAN, W ;

PROCKOP, DJ .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (15) :6624-6627

[2]

AHMAD NN, 1993, AM J HUM GENET, V52, P39

[3] COMPLETION OF THE INTRON EXON STRUCTURE OF THE GENE FOR HUMAN TYPE-II PROCOLLAGEN (COL2A1) - VARIATIONS IN THE NUCLEOTIDE-SEQUENCES OF THE ALLELES FROM 3 CHROMOSOMES [J].

ALAKOKKO, L ;

PROCKOP, DJ .

GENOMICS, 1990, 8 (03) :454-460

[4] STRUCTURE OF CDNA CLONES CODING FOR HUMAN TYPE-II PROCOLLAGEN - THE ALPHA-1(II) CHAIN IS MORE SIMILAR TO THE ALPHA-1(I) CHAIN THAN 2 OTHER ALPHA-CHAINS OF FIBRILLAR COLLAGENS [J].

BALDWIN, CT ;

REGINATO, AM ;

SMITH, C ;

JIMENEZ, SA ;

PROCKOP, DJ .

BIOCHEMICAL JOURNAL, 1989, 262 (02) :521-528

[5] FAST AND SENSITIVE SILVER STAINING OF DNA IN POLYACRYLAMIDE GELS [J].

BASSAM, BJ ;

CAETANOANOLLES, G ;

GRESSHOFF, PM .

ANALYTICAL BIOCHEMISTRY, 1991, 196 (01) :80-83

[6] PROCOLLAGEN-II GENE MUTATION IN STICKLER SYNDROME [J].

BROWN, DM ;

NICHOLS, BE ;

WEINGEIST, TA ;

SHEFFIELD, VC ;

KIMURA, AE ;

STONE, EM .

ARCHIVES OF OPHTHALMOLOGY, 1992, 110 (11) :1589-1593

[7]

FRANCOMANO C A, 1987, Genomics, V1, P293, DOI 10.1016/0888-7543(87)90027-9

[8] A SIMPLE AND EFFICIENT NON-ORGANIC PROCEDURE FOR THE ISOLATION OF GENOMIC DNA FROM BLOOD [J].

GRIMBERG, J ;

NAWOSCHIK, S ;

BELLUSCIO, L ;

MCKEE, R ;

TURCK, A ;

EISENBERG, A .

NUCLEIC ACIDS RESEARCH, 1989, 17 (20) :8390-8390

[9]

NICHOLS BE, 1994, AM J HUM GENET, V54, P95

[10]

NINMI ME, 1988, COLLAGEN, V1, P1

← 1 2 →