Literature DB >> 1392421

The restriction enzyme Mse I applied for the detection of a possibly common mutation of the APRT locus.

B S Gathof1, N Zöllner.   

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Year:  1992        PMID： 1392421     DOI： 10.1007/bf00210238

Source DB:  PubMed          Journal:  Clin Investig        ISSN： 0941-0198


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  3 in total

1.  Polymerase chain reaction amplification and sequence analysis of human mutant adenine phosphoribosyltransferase genes: the nature and frequency of errors caused by Taq DNA polymerase.

Authors:  J Chen; A Sahota; P J Stambrook; J A Tischfield
Journal:  Mutat Res       Date:  1991-07       Impact factor: 2.433

2.  Nephrolithiasis in twins with APRT-deficiency. Stones as a marker of an inborn error of metabolism.

Authors:  N Zöllner; U Gresser
Journal:  Bildgebung       Date:  1990

3.  Identification of a splice mutation at the adenine phosphoribosyltransferase locus in a German family.

Authors:  B S Gathof; A Sahota; U Gresser; J Chen; P J Stambrook; J A Tischfield; N Zöllner
Journal:  Klin Wochenschr       Date:  1990-12-30
  3 in total
  1 in total

1.  Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency.

Authors:  Guillaume Bollée; Cécile Dollinger; Lucile Boutaud; Delphine Guillemot; Albert Bensman; Jérôme Harambat; Patrice Deteix; Michel Daudon; Bertrand Knebelmann; Irène Ceballos-Picot
Journal:  J Am Soc Nephrol       Date:  2010-02-11       Impact factor: 10.121
  1 in total

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