Literature DB >> 2193488

Mutations in type I procollagen genes that cause osteogenesis imperfecta.

D J Prockop1, C T Baldwin, C D Constantinou.   

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Year:  1990        PMID： 2193488     DOI： 10.1007/978-1-4757-9065-8_2

Source DB:  PubMed          Journal:  Adv Hum Genet        ISSN： 0065-275X


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  6 in total

1.  Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene.

Authors:  A Hovnanian; P Duquesnoy; C Blanchet-Bardon; R G Knowlton; S Amselem; M Lathrop; L Dubertret; J Uitto; M Goossens
Journal:  J Clin Invest       Date:  1992-09       Impact factor: 14.808

Review 2.  The genetic contribution to the phenotype.

Authors:  U Wolf
Journal:  Hum Genet       Date:  1995-02       Impact factor: 4.132

3.  SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type II.

Authors:  K Mackay; A M Lund; M Raghunath; B Steinmann; R Dalgleish
Journal:  Hum Genet       Date:  1993-06       Impact factor: 4.132

4.  Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis.

Authors:  W A Horton; M A Machado; J Ellard; D Campbell; J Bartley; F Ramirez; E Vitale; B Lee
Journal:  Proc Natl Acad Sci U S A       Date:  1992-05-15       Impact factor: 11.205

5.  Reduced amounts of cartilage collagen fibrils and growth plate anomalies in transgenic mice harboring a glycine-to-cysteine mutation in the mouse type II procollagen alpha 1-chain gene.

Authors:  S Garofalo; E Vuorio; M Metsaranta; R Rosati; D Toman; J Vaughan; G Lozano; R Mayne; J Ellard; W Horton
Journal:  Proc Natl Acad Sci U S A       Date:  1991-11-01       Impact factor: 11.205

6.  Chondrodysplasia in transgenic mice harboring a 15-amino acid deletion in the triple helical domain of pro alpha 1(II) collagen chain.

Authors:  M Metsäranta; S Garofalo; G Decker; M Rintala; B de Crombrugghe; E Vuorio
Journal:  J Cell Biol       Date:  1992-07       Impact factor: 10.539
  6 in total

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