Literature DB >> 8401517

Identification of type I collagen gene (COL1A2) mutations in nonlethal osteogenesis imperfecta.

R Sztrolovics1, F H Glorieux, M van der Rest, P J Roughley.   

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Year:  1993        PMID： 8401517     DOI： 10.1093/hmg/2.8.1319

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


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  4 in total

1.  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.  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

3.  Local amino acid sequence patterns dominate the heterogeneous phenotype for the collagen connective tissue disease Osteogenesis Imperfecta resulting from Gly mutations.

Authors:  Jianxi Xiao; Zhangfu Yang; Xiuxia Sun; Rayna Addabbo; Jean Baum
Journal:  J Struct Biol       Date:  2015-05-15       Impact factor: 2.867

4.  Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia).

Authors:  Dina Nadyrshina; Aliya Zaripova; Anton Tyurin; Ildar Minniakhmetov; Ekaterina Zakharova; Rita Khusainova
Journal:  Genes (Basel)       Date:  2022-01-10       Impact factor: 4.096
  4 in total

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