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Authors: K Takahashi; X C Jiang; N Sakai; S Yamashita; K Hirano; H Bujo; H Yamazaki; J Kusunoki; T Miura; P Kussie
Journal: J Clin Invest Date: 1993-10 Impact factor: 14.808

6. Polymorphism in the RD (D6S45) gene.

Authors: P C White; J Vitek; R G Lahita; P W Speiser
Journal: Hum Genet Date: 1992-05 Impact factor: 4.132

7. Transgenic mice expressing a partially deleted gene for type I procollagen (COL1A1). A breeding line with a phenotype of spontaneous fractures and decreased bone collagen and mineral.

Authors: R Pereira; J S Khillan; H J Helminen; E L Hume; D J Prockop
Journal: J Clin Invest Date: 1993-02 Impact factor: 14.808

Human genetics. Bone disease cracks genetics.

1. A dominant mutation in the COL1A1 gene that substitutes glycine for valine causes recurrent lethal osteogenesis imperfecta.

2. Germinal mosaicism and risk calculation in X-linked diseases.

Review 3. The molecular basis of genetic dominance.

Review 4. Osteogenesis imperfecta: from phenotype to genotype and back again.

5. A missense mutation in the cholesteryl ester transfer protein gene with possible dominant effects on plasma high density lipoproteins.

6. Polymorphism in the RD (D6S45) gene.

7. Transgenic mice expressing a partially deleted gene for type I procollagen (COL1A1). A breeding line with a phenotype of spontaneous fractures and decreased bone collagen and mineral.

8. Dominant mutations in familial lethal and severe osteogenesis imperfecta.

Review 9. Genetic markers of osteoarticular disorders: facts and hopes.

10. Dominance from the perspective of gene-gene and gene-chemical interactions.