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Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome.
Lesch-Nyhan syndrome is caused by the complete deficiency of hypoxanthine guanine phosphoribosyl-transferase (HPRT). By the analysis of genomic DNA and mRNA using the polymerase chain reaction (PCR) technique coupled with direct sequencing, five independent mutations in HPRT genes have been identifi...
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| Main Authors: | , , , , , , , , |
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| Format: | Artigo |
| Language: | Inglês |
| Published: |
Korean Academy of Medical Sciences
1997
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| Subjects: | |
| Online Access: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3054221/ https://ncbi.nlm.nih.gov/pubmed/9288634 |
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