Identification and functional analysis o
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Marek OrendÑè; Ewa Pronicka; Jolanta Kubalska; Miroslav Janosik; Jitka SokolovÑ;
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Article
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2004
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John Wiley and Sons
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English
β 290 KB
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Homocystinuria due to cystathionine Ξ²-synthase (CBS) deficiency is an inherited disorder of homocysteine transsulfuration, which manifests by neurological, vascular and connective tissue involvement. So far, 130 pathogenic mutations have been recognized in the CBS gene. We examined 10 independent al