Branched chain acyltransferase absence due to an Alu-based genomic deletion allele and an exon skipping allele in a compound heterozygote proband expressing maple syrup urine disease.
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[1] R. Eddy,et al. Regional assignment of two genes of the human branched-chain α-keto acid dehydrogenase complex: The E1β gene (BCKDHB) to chromosome 6p21–22 and the E2 gene (DBT) to chromosome 1p31 , 1991 .
[2] J. Weber,et al. Molecular genetic basis of maple syrup urine disease in a family with two defective alleles for branched chain acyltransferase and localization of the gene to human chromosome 1. , 1991, American journal of human genetics.
[3] C. W. Fisher,et al. Localization of the dihydrolipoamide branched-chain transacylase gene (DBT) of the human branched-chain keto acid dehydrogenase complex to chromosome 1. , 1991, Cytogenetics and cell genetics.
[4] H. Hobbs,et al. The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein. , 1990, Annual review of genetics.
[5] L. Reed,et al. Structure-function relationships in dihydrolipoamide acyltransferases. , 1990, The Journal of biological chemistry.
[6] J. Chelly,et al. A "G" to "A" mutation at position -1 of a 5' splice site in a late infantile form of Tay-Sachs disease. , 1990, The Journal of biological chemistry.
[7] H. Hobbs,et al. A high frequency of length polymorphisms in repeated sequences adjacent to Alu sequences. , 1990, American journal of human genetics.
[8] S. Berget,et al. Exon definition may facilitate splice site selection in RNAs with multiple exons. , 1990, Molecular and cellular biology.
[9] D. Danner,et al. Reversion of the maple syrup urine disease phenotype of impaired branched chain alpha-ketoacid dehydrogenase complex activity in fibroblasts from an affected child. , 1989, The Journal of biological chemistry.
[10] S. Korman,et al. Hypobetalipoproteinemia due to an apolipoprotein B gene exon 21 deletion derived by Alu-Alu recombination. , 1989, The Journal of biological chemistry.
[11] J. Pruckler,et al. Construction and nucleotide sequence of a cDNA encoding the full-length preprotein for human branched chain acyltransferase. , 1989, The Journal of biological chemistry.
[12] D. Danner,et al. Mitochondrial import and processing of an in vitro synthesized human prebranched chain acyltransferase fragment. , 1988, American journal of human genetics.
[13] N. Gough. Rapid and quantitative preparation of cytoplasmic RNA from small numbers of cells. , 1988, Analytical biochemistry.
[14] J. Hutton,et al. Adenosine deaminase (ADA) deficiency due to deletion of the ADA gene promoter and first exon by homologous recombination between two Alu elements. , 1988, The Journal of clinical investigation.
[15] Marvin B. Shapiro,et al. RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. , 1987, Nucleic acids research.
[16] D. Russell,et al. Alu-Alu recombination deletes splice acceptor sites and produces secreted low density lipoprotein receptor in a subject with familial hypercholesterolemia. , 1987, The Journal of biological chemistry.
[17] P. Fernhoff,et al. Thiamine Response in Maple Syrup Urine Disease , 1985, Pediatric Research.
[18] L. Elsas,et al. Absence of branched chain acyl-transferase as a cause of maple syrup urine disease. , 1985, The Journal of clinical investigation.
[19] L. Elsas,et al. Direct physical evidence for stabilization of branched-chain alpha-ketoacid dehydrogenase by thiamin pyrophosphate. , 1984, American journal of human genetics.
[20] R. Rozen,et al. [38] Synthesis and intracellular transport of mitochondrial matrix proteins in rat liver: studies in vivo and in vitro , 1983 .
[21] S. Weissman,et al. A gene deletion ending at the midpoint of a repetitive DNA sequence in one form of hereditary persistence of fetal haemoglobin , 1982, Nature.
[22] L. Elsas,et al. Stabilization of mammalian liver branched-chain alpha-ketoacid dehydrogenase by thiamin pyrophosphate. , 1980, Archives of biochemistry and biophysics.