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Article

The Human Cystathionine β-Synthase (CBS) Gene: Complete Sequence, Alternative Splicing, and Polymorphisms

1 Sept 1998

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 9790750
DOI: 10.1006/geno.1998.5437

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The Human Cystathionine β-Synthase (CBS) Gene: Complete Sequence, Alternative Splicing, and PolymorphismsPMID 9790750Read ↗

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

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CBS domains: structure, function, and pathology in human proteins.Semantic proximity Read ↗

Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria.Semantic proximity Read ↗

Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L.Semantic proximity Read ↗

A proactive genotype-to-patient-phenotype map for cystathionine beta-synthaseSemantic proximity Read ↗

New evidence for the role of cystathionine beta-synthase in non-syndromic cleft lip with or without cleft palate.Semantic proximity Read ↗

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