101. Lesch Nyhan Syndrome Lesch Nyhan syndrome. Used for. hypoxanthine guanine phosphoribosyltransferasedeficiency Broader Terms. syndrome http://crisp.cit.nih.gov/Thesaurus/00004587.htm

Prev Term: lesbian Next Term: lesser panda Lesch Nyhan syndrome Used for: hypoxanthine guanine phosphoribosyltransferase deficiency Used for: IMP:pyrophosphate phosphoribosyltransferase deficiency Broader Terms: enzyme deficiency Broader Terms: mental retardation Broader Terms: purine /pyrimidine metabolism disorder Broader Terms: syndrome Related Terms: hyperuricemia Related Terms: hypoxanthine phosphoribosyltransferase Related Terms: sex linked trait Scope Note: rare x-linked disorder of purine metabolism, due to deficiency of hypoxanthine phosphoribosyltransferase; affected individuals are normal in the first year of life and then develop psychomotor retardation, extrapyramidal movement disorders, progressive spasticity, and seizures; self-destructive behaviors such as biting of fingers and lips are seen frequently; intellectual impairment may also occur but is typically not severe; elevation of uric acid in the serum leads to the development of renal calculi and gouty arthritis. Term Number: Send your comments to: Melody Lowe

102. ScienceDaily Books : Lesch Nyhan Syndrome: A Medical Dictionary, Bibliography, A Buy Lesch Nyhan syndrome A Medical Dictionary, Bibliography, And AnnotatedResearch Guide To Internet References Books cheap. http://www.sciencedaily.com/cgi-bin/apf4/amazon_products_feed.cgi?Operation=Item

103. OMIM - HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1 http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000

104. Hprt Description of the human hprt database and software. Database. The most recenthprt database contains information on over 2300 mutations found in vivo and...... http://www.ibiblio.org/dnam/des_hprt.htm

Description of the human hprt database and software Database The most recent hprt database contains information on over 2,300 mutations found in vivo and in vitro in the human hprt gene and runs under Windows. The version for evaluation on this homepage has fewer mutations and is a DOS program. The database contains information on the mutagen, dose, spontaneous and induced mutant fraction, base position, amino acid position, amino acid change, local DNA sequence, cell type, citation, and other items. In addition, information regarding the cause and effect of mutations affecting splicing is given. The database itself is in the dBASE format. Software Routines have been developed for the analysis of single base substitutions, including programs to: (i) determine if two mutational spectra are different (ii) determine if mutations show a DNA strand bias (iii) determine the frequency of transitions and transversions (iv) examine the number of mutations and mutable sites in each exon (v) display the number and kind of mutations observed at each base in the coding region (vi) perform nearest neighbor analysis (vii) display mutable amino acids in the hprt protein.

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