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R325X mutation in exon 15 of the hydroxymethylbilane synthase gene identified in two Danish families with acute intermittent porphyria.

Clinical chemistry - 1 Jan 1996

Petersen N E, Nissen H, Hansen T S, Rasmussen K, Brock A, Hørder M

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PMID: 8565205

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R325X mutation in exon 15 of the hydroxymethylbilane synthase gene identified in two Danish families with acute intermittent porphyria.PMID 8565205Read ↗

R173W mutation of hydroxymethylbilane synthetase is associated with acute intermittent porphyria complicated with rhabdomyolysis: the first report.Semantic proximity Read ↗

Molecular analysis of acute intermittent porphyria: mutation screening in 20 patients in Germany reveals 11 novel mutations.Semantic proximity Read ↗

Identification of two novel mutations in the hydroxymethylbilane synthase gene in three patients from two unrelated families with acute intermittent porphyria.Semantic proximity Read ↗

Molecular analysis of the hydroxymethylbilane synthase (HMBS) gene in Italian patients with acute intermittent porphyria: report of four novel mutations.Semantic proximity Read ↗

Identification and molecular analysis of 17 novel hydroxymethylbilane synthase mutations in 69 Chinese patients with acute intermittent porphyriaSemantic proximity Read ↗

Novel human pathological mutations. Gene symbol: HMBS. Disease: Porphyria, acute intermittent.Semantic proximity Read ↗

New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria.Semantic proximity Read ↗

Hematologically important mutations: acute intermittent porphyria.Semantic proximity Read ↗

Three splicing defects, an insertion, and two missense mutations responsible for acute intermittent porphyria.Semantic proximity Read ↗

Acute intermittent porphyria--impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties.Semantic proximity Read ↗

HMBS mutations in Chinese patients with acute intermittent porphyria.Semantic proximity Read ↗

Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British patients with acute intermittent porphyria: identification of 25 novel mutationsSemantic proximity Read ↗

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