Literature DB >> 1787829

Completion of the last half of the structure of the human gene for the Pro alpha 1 (I) chain of type I procollagen (COL1A1).

A Westerhausen1, C D Constantinou, M Pack, M Z Peng, C Hanning, A S Olsen, D J Prockop.   

Abstract

The nucleotide sequences of the 3'-half of the human gene for the pro alpha(I) chain of type I procollagen (COL1A1) is presented. The results provide the nucleotide sequences for 26 introns not previously analyzed. The sequences that are presented, together with those previously published, make it possible to design primers for the polymerase chain reaction for amplifying and sequencing the gene. The availability of such primers will greatly facilitate the current search for mutations that can cause common and rare diseases of connective tissue.

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Year:  1991        PMID： 1787829     DOI： 10.1016/s0934-8832(11)80191-5

Source DB:  PubMed          Journal:  Matrix        ISSN： 0934-8832


  6 in total

1.  Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: comparison with denaturing gradient gel electrophoresis and nucleotide sequencing.

Authors:  J Körkkö; S Annunen; T Pihlajamaa; D J Prockop; L Ala-Kokko
Journal:  Proc Natl Acad Sci U S A       Date:  1998-02-17       Impact factor: 11.205

2.  The human type I collagen mutation database.

Authors:  R Dalgleish
Journal:  Nucleic Acids Res       Date:  1997-01-01       Impact factor: 16.971

3.  Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations.

Authors:  J Körkkö; L Ala-Kokko; A De Paepe; L Nuytinck; J Earley; D J Prockop
Journal:  Am J Hum Genet       Date:  1998-01       Impact factor: 11.025

4.  Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains.

Authors:  M C Willing; S P Deschenes; R L Slayton; E J Roberts
Journal:  Am J Hum Genet       Date:  1996-10       Impact factor: 11.025

5.  Partial rescue of a lethal phenotype of fragile bones in transgenic mice with a chimeric antisense gene directed against a mutated collagen gene.

Authors:  J S Khillan; S W Li; D J Prockop
Journal:  Proc Natl Acad Sci U S A       Date:  1994-07-05       Impact factor: 11.205

6.  Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen.

Authors:  M C Willing; S P Deschenes; D A Scott; P H Byers; R L Slayton; S H Pitts; H Arikat; E J Roberts
Journal:  Am J Hum Genet       Date:  1994-10       Impact factor: 11.025
  6 in total

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