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. 1998 Dec;21(8):823-8.
doi: 10.1023/a:1005466601461.

Four novel mutations at the cystathionine beta-synthase locus causing homocystinuria

M Coudé  1 , J Aupetit, M T Zabot, P Kamoun, B Chadefaux-Vekemans
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Four novel mutations at the cystathionine beta-synthase locus causing homocystinuria

M Coudé et al. J Inherit Metab Dis. 1998 Dec.

Abstract

We describe four new mutations in the cystathionine beta-synthase gene: three point mutations localized in exons 3, 9 and 10 and one mutation in exon 12 which results in stop codon.

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References

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