PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy
Published inJournal of medical genetics, vol. 35, no. 3, p. 211-217
Publication date1998
Abstract
Keywords
- Child
- DNA Mutational Analysis
- DNA Primers
- Exons
- Female
- Founder Effect
- Haplotypes
- Humans
- Introns
- Laminin/genetics
- Male
- Microsatellite Repeats
- Muscular Dystrophies/congenital/diagnosis/genetics
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Polymorphism, Single-Stranded Conformational
- Prenatal Diagnosis
- Sequence Analysis, DNA
Citation (ISO format)
GUICHENEY, P et al. PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy. In: Journal of medical genetics, 1998, vol. 35, n° 3, p. 211–217. doi: 10.1136/jmg.35.3.211
Main files (1)
Article (Published version)
Identifiers
- PID : unige:74595
- DOI : 10.1136/jmg.35.3.211
- PMID : 9541105
Additional URL for this publicationhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC1051244/
Journal ISSN0022-2593