Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele
Published inJournal of medical genetics, vol. 49, no. 4, p. 270-276
Publication date2012
Abstract
Keywords
- Chromosome Duplication
- Chromosomes, Human, Pair 1
- Comparative Genomic Hybridization
- DNA Copy Number Variations
- Female
- Genes, Dominant
- Genetic Linkage
- Genome-Wide Association Study
- Haplotypes
- Hernia, Umbilical/genetics
- Humans
- Lod Score
- Male
- Pedigree
- Polymorphism, Single Nucleotide
Citation (ISO format)
RADHAKRISHNA, Uppala et al. Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele. In: Journal of medical genetics, 2012, vol. 49, n° 4, p. 270–276. doi: 10.1136/jmedgenet-2012-100826
Main files (1)
Article (Published version)

Identifiers
- PID : unige:34647
- DOI : 10.1136/jmedgenet-2012-100826
- PMID : 22499347
ISSN of the journal0022-2593