Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 1995;18(2):211-4.
doi: 10.1007/BF00711769.

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

M P Sperandeo  1 , M Panico, A Pepe, M Candito, R de Franchis, J P Kraus, G Andria, G Sebastio
Affiliations
Case Reports

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

M P Sperandeo et al. J Inherit Metab Dis. 1995.
No abstract available

PubMed Disclaimer

References

    1. Hum Mol Genet. 1993 Oct;2(10):1633-8 - PubMed
    1. Hum Mol Genet. 1993 Nov;2(11):1857-60 - PubMed
    1. Hum Mutat. 1992;1(2):113-23 - PubMed
    1. Hum Mol Genet. 1993 Jun;2(6):815-6 - PubMed
    1. Proc Natl Acad Sci U S A. 1977 Dec;74(12):5463-7 - PubMed

Publication types

Substances

LinkOut - more resources