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| The bloodless affected infant also had the common E474Q mutation (nucleotide G1528C) on the second allele. Thus, he is a compound heterozygote. The father and bloodless two normal siblings are heterozygous for this E474Q mutation. This initial delineation of the R524Stop mutation provides evidence of the heterogeneity bloodless of genetic defects responsible for TFP deficiency and AFLP.Publication Types: Case Reports MeSH Terms: 3-Hydroxyacyl CoA Dehydrogenases/deficiency* 3-Hydroxyacyl CoA Dehydrogenases/genetics Acute Disease Adult Alleles Exons Fatty Liver/genetics Fatty Liver/physiopathology* Female Fetal Proteins/deficiency* Fetal Proteins/genetics Humans Multienzyme Complexes/chemistry Multienzyme Complexes/deficiency* Multienzyme Complexes/genetics Mutation Nucleic Acid Hybridization/methods Oligonucleotide Probes Pedigree Peptide Fragments/genetics Pregnancy Pregnancy Complications/physiopathology* Research Support, U.S. Gov't, P.H.S. Substances: Fetal Proteins Multienzyme Complexes Oligonucleotide Probes Peptide Fragments fatty acid beta-oxidation multienzyme complex long-chain 3-hydroxyacyl CoA dehydrogenase 3-Hydroxyacyl CoA Dehydrogenases Grant Support: AM20407/AM/NIADDK PMID: 8865274 [PubMed - indexed for MEDLINE] Display Summary Brief Abstract Citation MEDLINE XML UI List LinkOut ASN.1 |
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