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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Hlavní autoři: Kim, K. J., Yamada, Y., Suzumori, K., Choi, Y., Yang, S. W., Cheong, H. I., Hwang, Y. S., Goto, H., Ogasawara, N.
Médium: Artigo
Jazyk:Inglês
Vydáno: Korean Academy of Medical Sciences 1997
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3054221/
https://ncbi.nlm.nih.gov/pubmed/9288634
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