Literature DB >> 2337303

Mutations in human procollagen genes. Consequences of the mutations in man and in transgenic mice.

D J Prockop1, A Olsen, S Kontusaari, J Hyland, L Ala-Kokko, N S Vasan, E Barton, S Buck, K Harrison, R L Brent.   

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Year:  1990        PMID： 2337303     DOI： 10.1111/j.1749-6632.1990.tb17942.x

Source DB:  PubMed          Journal:  Ann N Y Acad Sci        ISSN： 0077-8923            Impact factor:   5.691


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  4 in total

1.  A single base mutation in type I procollagen (COL1A1) that converts glycine alpha 1-541 to aspartate in a lethal variant of osteogenesis imperfecta: detection of the mutation with a carbodiimide reaction of DNA heteroduplexes and direct sequencing of products of the PCR.

Authors:  J P Zhuang; C D Constantinou; A Ganguly; D J Prockop
Journal:  Am J Hum Genet       Date:  1991-06       Impact factor: 11.025

2.  Phenotypic heterogeneity in osteogenesis imperfecta: the mildly affected mother of a proband with a lethal variant has the same mutation substituting cysteine for alpha 1-glycine 904 in a type I procollagen gene (COL1A1).

Authors:  C D Constantinou; M Pack; S B Young; D J Prockop
Journal:  Am J Hum Genet       Date:  1990-10       Impact factor: 11.025

3.  The function of type IV collagen during Drosophila embryogenesis.

Authors:  C Borchiellini; J Coulon; Y Le Parco
Journal:  Rouxs Arch Dev Biol       Date:  1996-05

4.  Identification of the molecular recognition sequence which determines the type-specific assembly of procollagen.

Authors:  J F Lees; M Tasab; N J Bulleid
Journal:  EMBO J       Date:  1997-03-03       Impact factor: 11.598
  4 in total

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