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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作者信息

Sperandeo M P, Panico M, Pepe A, Candito M, de Franchis R, Kraus J P, Andria G, Sebastio G

机构信息

Department of Pediatrics, Federico II University, Naples, Italy.

出版信息

J Inherit Metab Dis. 1995;18(2):211-4. doi: 10.1007/BF00711769.

DOI:10.1007/BF00711769

PMID:7564249

Abstract

摘要

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本文引用的文献

Molecular defect in a patient with pyridoxine-responsive homocystinuria.

Hum Mol Genet. 1993 Jun;2(6):815-6. doi: 10.1093/hmg/2.6.815.

Human cystathionine beta-synthase cDNA: sequence, alternative splicing and expression in cultured cells.

Hum Mol Genet. 1993 Oct;2(10):1633-8. doi: 10.1093/hmg/2.10.1633.

Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria.

Hum Mol Genet. 1993 Nov;2(11):1857-60. doi: 10.1093/hmg/2.11.1857.

Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency.

Hum Mutat. 1992;1(2):113-23. doi: 10.1002/humu.1380010206.

DNA sequencing with chain-terminating inhibitors.

Proc Natl Acad Sci U S A. 1977 Dec;74(12):5463-7. doi: 10.1073/pnas.74.12.5463.

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