Literature DB >> 7906591

A novel glycine to glutamic acid substitution at position 343 in the alpha 2 chain of type I collagen in an individual with lethal osteogenesis imperfecta.

N J Rose1, K Mackay, P H Byers, R Dalgleish.   

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Year:  1993        PMID： 7906591     DOI： 10.1093/hmg/2.12.2175

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  2 in total

1.  Three unrelated individuals with perinatally lethal osteogenesis imperfecta resulting from identical Gly502Ser substitutions in the alpha 2-chain of type I collagen.

Authors:  N J Rose; K Mackay; A De Paepe; B Steinmann; H H Punnett; R Dalgleish
Journal:  Hum Genet       Date:  1994-11       Impact factor: 4.132

2.  A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III.

Authors:  N J Rose; K Mackay; P H Byers; R Dalgleish
Journal:  Hum Genet       Date:  1995-02       Impact factor: 4.132
  2 in total

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