TY  - GEN
AU  - Job,Florian
AU  - Mizumoto,Shuji
AU  - Smith,Laurie
AU  - Couser,Natario
AU  - Brazil,Ashley
AU  - Saal,Howard
AU  - Patterson,Melanie
AU  - Gibson,Margaret I
AU  - Soden,Sarah
AU  - Miller,Neil
AU  - Thiffault,Isabelle
AU  - Saunders,Carol
AU  - Yamada,Shuhei
AU  - Hoffmann,Katrin
AU  - Sugahara,Kazuyuki
AU  - Farrow,Emily
TI  - Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype
SN  - 1471-2350
PY  - 2017///0502
KW  - Bone Diseases, Metabolic
KW  - genetics
KW  - Child, Preschool
KW  - DNA
KW  - chemistry
KW  - Fractures, Bone
KW  - Genetic Variation
KW  - Genotype
KW  - Glucuronosyltransferase
KW  - Heterozygote
KW  - High-Throughput Nucleotide Sequencing
KW  - Humans
KW  - Male
KW  - Mutation, Missense
KW  - Pedigree
KW  - Phenotype
KW  - Recombinant Proteins
KW  - biosynthesis
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1186/s12881-016-0344-9
ER  -