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3. Carnitine/acylcarnitine translocase deficiency (neonatal phenotype): successful prenatal and postmortem diagnosis associated with a novel mutation in a single family. Yang BZ; Mallory JM; Roe DS; Brivet M; Strobel GD; Jones KM; Ding JH; Roe CR Mol Genet Metab; 2001 May; 73(1):64-70. PubMed ID: 11350184 [TBL] [Abstract][Full Text] [Related]
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9. Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis. Wang GL; Wang J; Douglas G; Browning M; Hahn S; Ganesh J; Cox S; Aleck K; Schmitt ES; Zhang W; Wong LJ Mol Genet Metab; 2011 Aug; 103(4):349-57. PubMed ID: 21605995 [TBL] [Abstract][Full Text] [Related]
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18. Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1. Hahn SH; Krasnewich D; Brantly M; Kvittingen EA; Gahl WA Hum Mutat; 1995; 6(1):66-73. PubMed ID: 7550234 [TBL] [Abstract][Full Text] [Related]
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