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: Lesch-Nyhan syndrome due to a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale).
    Author: Fujimori S, Davidson BL, Kelley WN, Palella TD.
    Journal: Adv Exp Med Biol; 1989; 253A():135-8. PubMed ID: 2624182.
    Abstract:
    We have cloned and sequenced a full length cDNA for HPRT cDNA for HPRTYale isolated from Lesch-Nyhan subject and identified a single nucleotide substitution which results in amino acid substitution of glycine to arginine. Since most HPRT mutants have normal levels of specific HPRT messenger RNA, mutant cDNA analysis is the method of choice to define the mutation in HPRT deficient subjects.
    [Abstract] [Full Text] [Related] [New Search]