Two novel missense mutations in the cystathionine beta-synthase gene in homocystinuric patients.
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Kluijtmans LA, Blom HJ, Boers GH, van Oost BA, Trijbels FJ, van den Heuvel LP
Two novel missense mutations in the cystathionine beta-synthase gene in homocystinuric patients.
Hum Genet. 1995 Aug;96(2):249-50.
- PubMed ID
- 7635485 [ View in PubMed]
- Abstract
Direct sequencing of the coding region of the cystathionine beta-synthase (CBS) gene in two homocystinuric patients revealed the presence of two novel missense mutations. The first mutation, a 1111G-->A transition, resulted in the substitution of the evolutionary conserved valine-371 by a methionine residue (V371M) and created a new NlaIII restriction site. The second mutation, a G-->A transition at base-pair 494, resulted in an amino acid change from cysteine to tyrosine (C165Y) and abolished a BsoFI restriction site. Both mutations were found in a compound heterozygous state with the previously described 833T-->C transition.