| Predicate | Object |
|---|---|
| rdf:type | |
| entrezgene:geneRifText |
clinical, biochemical & genetic findings of two newly identified patients with a complete DHP deficiency; both patients were compound heterozygous for the missense mutation 1078T>C (W360R) in exon 6 and a novel missense mutation 1235G>T (R412M) in exon 7
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