Literature DB >> 7749416

A novel G1006A substitution in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III.

J Lu1, T Costa, W G Cole.   

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Year:  1995        PMID： 7749416     DOI： 10.1002/humu.1380050212

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  2 in total

1.  Arachnoid cyst and chronic subdural haematoma in a child with osteogenesis imperfecta type III resulting from the substitution of glycine 1006 by alanine in the pro alpha 2(I) chain of type I procollagen.

Authors:  W G Cole; T P Lam
Journal:  J Med Genet       Date:  1996-03       Impact factor: 6.318

2.  Disrupted growth plates and progressive deformities in osteogenesis imperfecta as a result of the substitution of glycine 585 by valine in the alpha 2 (I) chain of type I collagen.

Authors:  W G Cole; D Chan; C W Chow; J G Rogers; J F Bateman
Journal:  J Med Genet       Date:  1996-11       Impact factor: 6.318
  2 in total

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