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Article

Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria.

Human molecular genetics - 1 Oct 1994

Marble M, Geraghty M T, de Franchis R, Kraus J P, Valle D

Abstract excerpt

We used SSCP to survey reverse transcribed-PCR amplified cystathionine synthase cDNAs from patients with homocystinuria. In a single CBS allele, we identified one synonymous and two missense mutations in a portion of the cDNA encoded by a single 135 bp exon which also encodes K119, the putative site of cofactor, pyridoxal 5'-phosphate, binding. The patient, a B6-nonresponsive homocystinuric of Irish descent, is...

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Identifiers

PMID: 7849717
DOI: 10.1093/hmg/3.10.1883

Genes

CBS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria.PMID 7849717Read ↗

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