Literature DB >> 7912608

Occurrence of a missense mutation in one allele and a seven basepair deletion in the other allele in a patient with adenine phosphoribosyltransferase deficiency.

A Sahota1, J Chen, S Bye, J Jaing, M Berenyi, G Fekete, J A Tischfield.   

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Year:  1994        PMID: 7912608     DOI: 10.1002/humu.1380030324

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


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  1 in total

1.  Identification of a 7-basepair deletion in the adenine phosphoribosyltransferase gene as a cause of 2,8-dihydroxyadenine urolithiasis.

Authors:  S Bye; R Mallmann; J Duley; H A Simmonds; J Chen; J A Tischfield; A Sahota
Journal:  Clin Investig       Date:  1994-07
  1 in total

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