Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype.
Job, Florian
Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype. [electronic resource] - BMC medical genetics Nov 2016 - 86 p. digital
Publication Type: Case Reports; Journal Article
1471-2350
10.1186/s12881-016-0344-9 doi
Bone Diseases, Metabolic--genetics
Child, Preschool
DNA--chemistry
Fractures, Bone--genetics
Genetic Variation
Genotype
Glucuronosyltransferase--genetics
Heterozygote
High-Throughput Nucleotide Sequencing
Humans
Male
Mutation, Missense
Pedigree
Phenotype
Recombinant Proteins--biosynthesis
Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype. [electronic resource] - BMC medical genetics Nov 2016 - 86 p. digital
Publication Type: Case Reports; Journal Article
1471-2350
10.1186/s12881-016-0344-9 doi
Bone Diseases, Metabolic--genetics
Child, Preschool
DNA--chemistry
Fractures, Bone--genetics
Genetic Variation
Genotype
Glucuronosyltransferase--genetics
Heterozygote
High-Throughput Nucleotide Sequencing
Humans
Male
Mutation, Missense
Pedigree
Phenotype
Recombinant Proteins--biosynthesis