(Q32137876)
Statements
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A nonsense mutation in the exon 2 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patients (English)
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Casale CH
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Casals N
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Pié J
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Zapater N
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Pérez-Cerdá C
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Merinero B
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Martínez-Pardo M
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García-Peñas JJ
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García-Gonzalez JM
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Lama R
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Poll-The BT
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Smeitink JA
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Wanders RJ
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Ugarte M
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Hegardt FG
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Identifiers
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