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18 in total

1. Family studies of the Lesch-Nyhan syndrome: the use of a restriction fragment length polymorphism (RFLP) closely linked to the disease gene for carrier state and prenatal diagnosis.

Authors: D A Gibbs; C M Headhouse-Benson; R W Watts
Journal: J Inherit Metab Dis Date: 1986 Impact factor: 4.982

2. Contributions of Lesch-Nyhan syndrome to the understanding of purine metabolism.

Authors: J E Seegmiller
Journal: J Inherit Metab Dis Date: 1989 Impact factor: 4.982

3. Specific enzymatic amplification of DNA in vitro: the polymerase chain reaction.

Authors: K Mullis; F Faloona; S Scharf; R Saiki; G Horn; H Erlich
Journal: Cold Spring Harb Symp Quant Biol Date: 1986

4. First-trimester diagnosis of Lesch-Nyhan syndrome.

Authors: D A Gibbs; I R McFadyen; M D Crawfurd; E E De Muinck Keizer; C M Headhouse-Benson; T M Wilson; P H Farrant
Journal: Lancet Date: 1984-11-24 Impact factor: 79.321

5. A potential animal model for Lesch-Nyhan syndrome through introduction of HPRT mutations into mice.

Authors: M R Kuehn; A Bradley; E J Robertson; M J Evans
Journal: Nature Date: 1987 Mar 19-25 Impact factor: 49.962

6. Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients.

Authors: T P Yang; P I Patel; A C Chinault; J T Stout; L G Jackson; B M Hildebrand; C T Caskey
Journal: Nature Date: 1984 Aug 2-8 Impact factor: 49.962

7. Human hypoxanthine-guanine phosphoribosyltransferase. Demonstration of structural variants in lymphoblastoid cells derived from patients with a deficiency of the enzyme.

Authors: J M Wilson; B W Baugher; P M Mattes; P E Daddona; W N Kelley
Journal: J Clin Invest Date: 1982-03 Impact factor: 14.808

8. Localization of loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphate dehydrogenase and biochemical evidence of nonrandom X chromosome expression from studies of a human X-autosome translocation.

Authors: G S Pai; J A Sprenkle; T T Do; C E Mareni; B R Migeon
Journal: Proc Natl Acad Sci U S A Date: 1980-05 Impact factor: 11.205

9. A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man.

Authors: R L Nussbaum; W E Crowder; W L Nyhan; C T Caskey
Journal: Proc Natl Acad Sci U S A Date: 1983-07 Impact factor: 11.205

10. Isolation and characterization of a full-length expressible cDNA for human hypoxanthine phosphoribosyl transferase.

Authors: D J Jolly; H Okayama; P Berg; A C Esty; D Filpula; P Bohlen; G G Johnson; J E Shively; T Hunkapillar; T Friedmann
Journal: Proc Natl Acad Sci U S A Date: 1983-01 Impact factor: 11.205