Literature DB >> 2989837

DNA polymorphisms in collagen genes: potential use in the study of disease.

A L Børresen, K Berg, P Tsipouras, L A Dickson, D J Prockop, F Ramirez.   

Abstract

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Year:  1985        PMID： 2989837

Source DB:  PubMed          Journal:  Prog Clin Biol Res        ISSN： 0361-7742


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  3 in total

1.  High recombination between two physically close human basement membrane collagen genes at the distal end of chromosome 13q.

Authors:  A M Bowcock; J M Hebert; E Wijsman; I Gadi; L L Cavalli-Sforza; C D Boyd
Journal:  Proc Natl Acad Sci U S A       Date:  1988-04       Impact factor: 11.205

2.  Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2.

Authors:  B Sykes; D Ogilvie; P Wordsworth; G Wallis; C Mathew; P Beighton; A Nicholls; F M Pope; E Thompson; P Tsipouras
Journal:  Am J Hum Genet       Date:  1990-02       Impact factor: 11.025

3.  A mutation in the pro alpha 2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype.

Authors:  N S Vasan; H Kuivaniemi; B E Vogel; R R Minor; J A Wootton; G Tromp; R Weksberg; D J Prockop
Journal:  Am J Hum Genet       Date:  1991-02       Impact factor: 11.025
  3 in total

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