doi: 10.1023/a:1005466601461.
Four novel mutations at the cystathionine beta-synthase locus causing homocystinuria
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- PMID: 9870207
- DOI: 10.1023/a:1005466601461
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Four novel mutations at the cystathionine beta-synthase locus causing homocystinuria
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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