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Hum Genet. 1995 Aug;96(2):249-50.

Two novel missense mutations in the cystathionine beta-synthase gene in homocystinuric patients.

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Department of Paediatrics, University Hospital Nijmegen, The Netherlands.


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.

[Indexed for MEDLINE]

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