These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: A novel intragenic polymorphism within the COL1A1 locus which can be detected by Taq I restriction of amplified genomic DNA.
    Author: Mirandola S, Pignatti PF, Mottes M.
    Journal: Mol Cell Probes; 1999 Jun; 13(3):243-5. PubMed ID: 10369751.
    Abstract:
    A C-->T transition at nucleotide 9168 of COL1A1 genomic sequence (GenBank AF017178) was found in three unrelated patients, during the search for OI causal mutations. This polymorphic variant was then tested in the general population by Taq I restriction of genomic DNA amplified with a specifically designed restriction enzyme site-generating oligonucleotide primer. Allelic frequencies were found to be: 0.88 (C allele) and 0.12 (T allele), respectively.
    [Abstract] [Full Text] [Related] [New Search]