Molecular genetic analysis of the cystathionine beta-synthase gene in Portuguese homocystinuria patients: three novel mutations

Clin Genet. 2001 Aug;60(2):161-3. doi: 10.1034/j.1399-0004.2001.600212.x.

Authors

R Castro, S G Heil, I Rivera, C Jakobs, I T de Almeida, H J Blom

PMID: 11553052
DOI: 10.1034/j.1399-0004.2001.600212.x

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Cystathionine beta-Synthase / genetics*
DNA / chemistry
DNA / genetics
DNA Mutational Analysis
Family Health
Female
Homocystinuria / enzymology
Homocystinuria / genetics*
Humans
Male
Mutation
Pedigree
Portugal

Substances

DNA
Cystathionine beta-Synthase