Molecular analysis of patients affected by homocystinuria due to cystathionine beta-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11.

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Citation

Sperandeo MP, Panico M, Pepe A, Candito M, de Franchis R, Kraus JP, Andria G, Sebastio G

Molecular analysis of patients affected by homocystinuria due to cystathionine beta-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11.

J Inherit Metab Dis. 1995;18(2):211-4.

PubMed ID
7564249 [ View in PubMed
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Abstract

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Polypeptides
NameUniProt ID
Cystathionine beta-synthaseP35520Details