Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele.
Radhakrishna, Uppala
Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele. [electronic resource] - Journal of medical genetics Apr 2012 - 270-6 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1468-6244
10.1136/jmedgenet-2012-100826 doi
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
Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele. [electronic resource] - Journal of medical genetics Apr 2012 - 270-6 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1468-6244
10.1136/jmedgenet-2012-100826 doi
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