Identification of a new lesch-nyhan syndrome mutation (HPRT BRASIL) and analysis of potentially heterozygous females
The mutation in the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene has been determined in two brothers affected with Lesch-Nyhan syndrome. Female members of the family who are at risk for being heterozygous carriers of the HPRT mutation were also studied to determine whether they carry t...
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| Principais autores: | , , , , , , , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Thieme Revinter Publicações
1999-12-01
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| Serier: | Arquivos de Neuro-Psiquiatria |
| Fag: | |
| Online adgang: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1999000600001&tlng=en |
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