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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...

詳細記述

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書誌詳細
主要な著者: Kim, K. J., Yamada, Y., Suzumori, K., Choi, Y., Yang, S. W., Cheong, H. I., Hwang, Y. S., Goto, H., Ogasawara, N.
フォーマット: Artigo
言語:Inglês
出版事項: Korean Academy of Medical Sciences 1997
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3054221/
https://ncbi.nlm.nih.gov/pubmed/9288634
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