Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: report on three novel mutations E176K, W409X and 1223 + 37 del99.

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Kozich V, Janosik M, Sokolova J, Oliveriusova J, Orendac M, Kraus JP, Elleder D

Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: report on three novel mutations E176K, W409X and 1223 + 37 del99.

J Inherit Metab Dis. 1997 Jul;20(3):363-6.

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9266356 [ View in PubMed
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Polypeptides
NameUniProt ID
Cystathionine beta-synthaseP35520Details