Literature DB >> 2116548

Characterization of three new deletions at the 5' end of the HPRT structural gene.

M Wehnert1, F H Herrmann.   

Abstract

In a panel of seven unrelated HPRT-deficient patients three partial deletions of the 5' end of the HPRT structural gene were identified by Southern blot analysis. The deletions could be defined as the loss of exons 1-3, exons 2-3 and exon 3 respectively. In two of the deletion mutations aberrant restriction fragments occurred.

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Year:  1990        PMID： 2116548     DOI： 10.1007/bf01799683

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  13 in total

1.  A specific enzyme defect in gout associated with overproduction of uric acid.

Authors:  W N Kelley; F M Rosenbloom; J F Henderson; J E Seegmiller
Journal:  Proc Natl Acad Sci U S A       Date:  1967-06       Impact factor: 11.205

Review 2.  HPRT: gene structure, expression, and mutation.

Authors:  J T Stout; C T Caskey
Journal:  Annu Rev Genet       Date:  1985       Impact factor: 16.830

3.  Resolution of a missense mutant in human genomic DNA by denaturing gradient gel electrophoresis and direct sequencing using in vitro DNA amplification: HPRT Munich.

Authors:  N F Cariello; J K Scott; A G Kat; W G Thilly; P Keohavong
Journal:  Am J Hum Genet       Date:  1988-05       Impact factor: 11.025

4.  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

5.  Organization of the HPRT gene and related sequences in the human genome.

Authors:  P I Patel; R L Nussbaum; P E gramson; D H Ledbetter; C T Caskey; A C Chinault
Journal:  Somat Cell Mol Genet       Date:  1984-09

6.  A molecular survey of hypoxanthine-guanine phosphoribosyltransferase deficiency in man.

Authors:  J M Wilson; J T Stout; T D Palella; B L Davidson; W N Kelley; C T Caskey
Journal:  J Clin Invest       Date:  1986-01       Impact factor: 14.808

7.  Identification and localization of mutations at the Lesch-Nyhan locus by ribonuclease A cleavage.

Authors:  R A Gibbs; C T Caskey
Journal:  Science       Date:  1987-04-17       Impact factor: 47.728

8.  Molecular studies of hypoxanthine-guanine phosphoribosyltransferase mutations in six Australian families.

Authors:  R B Gordon; B T Emmerson; J T Stout; C T Caskey
Journal:  Aust N Z J Med       Date:  1987-08

9.  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

10.  Genetic basis of hypoxanthine guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome (HPRTFlint).

Authors:  B L Davidson; M Pashmforoush; W N Kelley; T D Palella
Journal:  Gene       Date:  1988-03-31       Impact factor: 3.688
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  2 in total

1.  Phenotypic and molecular spectrum of Korean patients with Lesch-Nyhan syndrome and attenuated clinical variants.

Authors:  Ja Hyang Cho; Jin-Ho Choi; Sun Hee Heo; Gu-Hwan Kim; Mi-Sun Yum; Beom Hee Lee; Han-Wook Yoo
Journal:  Metab Brain Dis       Date:  2019-05-25       Impact factor: 3.584

2.  Structural gene aberrations in mucopolysaccharidosis II (Hunter).

Authors:  M Wehnert; J J Hopwood; W Schröder; F H Herrmann
Journal:  Hum Genet       Date:  1992-06       Impact factor: 4.132
  2 in total

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