Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1)
Published inHuman genetics, vol. 105, no. 5, p. 489-495
Publication date1999
Abstract
Keywords
- Base Sequence
- DNA Mutational Analysis
- DNA Primers/genetics
- DNA, Complementary/genetics
- Exons
- Female
- Genetic Complementation Test
- Holoprosencephaly/ enzymology/ genetics
- Humans
- Intramolecular Transferases/ genetics
- Introns
- Male
- Mutation, Missense
- Pedigree
- Polymorphism, Single-Stranded Conformational
- Reverse Transcriptase Polymerase Chain Reaction
- Saccharomyces cerevisiae/genetics
Affiliation
Citation (ISO format)
ROESSLER, E. et al. Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1). In: Human genetics, 1999, vol. 105, n° 5, p. 489–495. doi: 10.1007/s004390051135
Main files (1)
Article
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Identifiers
- PID : unige:9000
- DOI : 10.1007/s004390051135
- PMID : 10598817
ISSN of the journal0340-6717