Alternative splicing in COL1A1 mRNA leads to a partial null allele and two in-frame forms with structural defects in non-lethal osteogenesis imperfecta

Journal of Biological Chemistry

Volumn 271, Issue 45, 1996, Pages 28617-28623

  Wang, Qin ^a   Forlino, Antonella ^a   Marini, Joan C ^a,b  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN; MESSENGER RNA;

ADULT; ALLELE; ALTERNATIVE RNA SPLICING; AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; FEMALE; GENE DELETION; GENE INSERTION; GENE LOCATION; GENETIC SUSCEPTIBILITY; HETEROZYGOTE DETECTION; HUMAN; MALE; OSTEOGENESIS IMPERFECTA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADULT; AGED; ALLELES; ALTERNATIVE SPLICING; CHILD; COLLAGEN; DNA, COMPLEMENTARY; FEMALE; HUMANS; MALE; OSTEOGENESIS IMPERFECTA; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROCOLLAGEN; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA;

EID: 0029946458     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.271.45.28617     Document Type: Article

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