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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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Detalles Bibliográficos
Autores principales: Kim, K. J., Yamada, Y., Suzumori, K., Choi, Y., Yang, S. W., Cheong, H. I., Hwang, Y. S., Goto, H., Ogasawara, N.
Formato: Texto
Lenguaje:English
Publicado: Korean Academy of Medical Sciences 1997
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3054221/
https://www.ncbi.nlm.nih.gov/pubmed/9288634
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author Kim, K. J.
Yamada, Y.
Suzumori, K.
Choi, Y.
Yang, S. W.
Cheong, H. I.
Hwang, Y. S.
Goto, H.
Ogasawara, N.
author_facet Kim, K. J.
Yamada, Y.
Suzumori, K.
Choi, Y.
Yang, S. W.
Cheong, H. I.
Hwang, Y. S.
Goto, H.
Ogasawara, N.
author_sort Kim, K. J.
collection PubMed
description 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 identified in Korean Lesch-Nyhan families. Two novel mutations and three previously reported mutations have been found in five independent families. Heterozygous carriers were detected in all the families, and prenatal diagnosis was carried out in two families.
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spelling pubmed-30542212011-03-15 Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome. Kim, K. J. Yamada, Y. Suzumori, K. Choi, Y. Yang, S. W. Cheong, H. I. Hwang, Y. S. Goto, H. Ogasawara, N. J Korean Med Sci Research Article 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 identified in Korean Lesch-Nyhan families. Two novel mutations and three previously reported mutations have been found in five independent families. Heterozygous carriers were detected in all the families, and prenatal diagnosis was carried out in two families. Korean Academy of Medical Sciences 1997-08 /pmc/articles/PMC3054221/ /pubmed/9288634 Text en
spellingShingle Research Article
Kim, K. J.
Yamada, Y.
Suzumori, K.
Choi, Y.
Yang, S. W.
Cheong, H. I.
Hwang, Y. S.
Goto, H.
Ogasawara, N.
Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome.
title Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome.
title_full Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome.
title_fullStr Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome.
title_full_unstemmed Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome.
title_short Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome.
title_sort molecular analysis of hypoxanthine guanine phosphoribosyltransferase (hprt) gene in five korean families with lesch-nyhan syndrome.
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3054221/
https://www.ncbi.nlm.nih.gov/pubmed/9288634
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