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

W. Joseph Herring, Martha McKean, Nicolas Dracopoli, Dean J. Danner

Research output: Contribution to journal › Article › peer-review

23 Scopus citations

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Medicine & Life Sciences