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Case Reports
. 1988 Mar;78(3):233-6.
doi: 10.1007/BF00291667.

Homozygous osteogenesis imperfecta unlinked to collagen I genes

K Aitchison  1 , D Ogilvie, M Honeyman, E Thompson, B Sykes
Affiliations
Case Reports

Homozygous osteogenesis imperfecta unlinked to collagen I genes

K Aitchison et al. Hum Genet. 1988 Mar.

Abstract

In a consanguineous pedigree in which a severe type of osteogenesis imperfecta was segregating as an autosomal recessive trait, analysis of genetic markers for both collagen I structural loci COL1A1 and COL1A2 showed that the phenotype was unlinked to either locus.

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References

    1. Hum Genet. 1985;70(1):35-7 - PubMed
    1. Nature. 1985 Jul 4-10;316(6023):76-9 - PubMed
    1. EMBO J. 1985 Jul;4(7):1745-8 - PubMed
    1. J Med Genet. 1985 Jun;22(3):182-6 - PubMed
    1. Lancet. 1986 Jul 12;2(8498):69-72 - PubMed

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