Učitavanje...
A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects.
Adenine phosphoribosyltransferase (APRT) deficiency is a genetic disorder which causes 2,8-dihydroxy-adenine urolithiasis. The estimated incidence of heterozygosity in Caucasian and Japanese populations is 1%. Mutant alleles responsible for the disease have been classified as APRT*Q0 (type I) and AP...
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| Glavni autori: | , , , , , , |
|---|---|
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
1991
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1682758/ https://ncbi.nlm.nih.gov/pubmed/1985452 |
| Oznake: |
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