(Q44120171)
Statements
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Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients (English)
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Arranz JA
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Piñol F
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Kozak L
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Pérez-Cerdá C
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Ugarte M
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Riudor E
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1 September 2002
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20
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3
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180-188
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Identifiers
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