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- W142306806 abstract "Mutations found in Spanish deficient families are heterogeneous: 8 point mutations, 3 deletions and 2 insertions, and are dispersed all over the HPRT gene. There is not a prevalent mutation in the Spanish HPRT deficient population. Eight mutations were isolated from patients with Lesch-Nyhan phenotype and most of them are mutations that predict the generation of (non-functional) truncated proteins. Five mutations were identified from patients with the partial phenotype and all were missense mutations. Mutations that result in truncated proteins were commonly associated with Lesch-Nyhan phenotypes. Characterization of the HPRT mutations allowed a definitive carrier and prenatal genetic diagnosis. These genetic diagnostic methods are faster and more accurate than enzymatic and biochemical methods." @default.
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- W142306806 date "2006-03-01" @default.
- W142306806 modified "2023-09-27" @default.
- W142306806 title "Mutations in the Hypoxanthine-Guanine Phosphoribosyltransferase Gene in Spanish HPRT Deficient Families" @default.
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- W142306806 doi "https://doi.org/10.1007/0-306-46843-3_3" @default.
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