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Article

Molecular analysis of patients affected by homocystinuria due to cystathionine beta-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11.

Journal of inherited metabolic disease - 1 Jan 1995

Sperandeo M P, Panico M, Pepe A, Candito M, de Franchis R, Kraus J P, Andria G, Sebastio G

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 7564249
DOI: 10.1007/BF00711769

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Molecular analysis of patients affected by homocystinuria due to cystathionine beta-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11.PMID 7564249Read ↗

Four novel mutations at the cystathionine beta-synthase locus causing homocystinuria.Semantic proximity Read ↗

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Mutational analysis of the cystathionine beta-synthase gene: a splicing mutation, two missense mutations and an insertion in patients with homocystinuria. Mutations in brief no. 120. Online.Semantic proximity Read ↗

High frequency (71%) of cystathionine beta-synthase mutation G307S in Irish homocystinuria patients.Semantic proximity Read ↗

A new mutation trans to I278T cystathionine beta-synthase associated with Factor V Leiden causes mild homocystinuria but severe vascular disease.Semantic proximity Read ↗

Characterization of cystathionine beta-synthase gene mutations in homocystinuric Venezuelan patients: identification of one novel mutation in exon 6.Semantic proximity Read ↗

Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuria.Semantic proximity Read ↗

Pyridoxine non-responsive p.R336C mutation alters the molecular properties of cystathionine beta-synthase leading to severe homocystinuria phenotype.Semantic proximity Read ↗

Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria.Semantic proximity Read ↗

Two novel rare frameshift mutations (2423 del G in exon 13 and 1215 del G in exon 7) and one novel rare sequence variation (3271 + 18 C or T) identified in a patient with cystic fibrosis.Semantic proximity Read ↗

A 3' consensus splice mutation in the human dystrophin gene detected by a screening for intra-exonic deletions.Semantic proximity Read ↗

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