Identification of a 7-basepair deletion
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Bye, S. ;Mallmann, R. ;Duley, J. ;Simmonds, H.A. ;Chen, J. ;Tischfield, J.A. ;Sa
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Article
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1994
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Springer-Verlag
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English
β 413 KB
We describe a family of Turkish origin with adenine phosphoribosyltransferase (APRT) deficiency and renal stone disease. The proband had 2,8-dihydroxyadenine urolithiasis but an older sister, who was also deficient in enzyme activity, is so far asymptomatic. The proband was homozygous for a 7-bp del