Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype
B3GAT3 中新型复合杂合变异的功能验证导致严重骨质减少和骨折：扩大疾病表型
期刊:BMC Medical Genetics
影响因子:
doi:10.1186/s12881-016-0344-9
Florian Job, Shuji Mizumoto, Laurie Smith, Natario Couser, Ashley Brazil, Howard Saal, Melanie Patterson, Margaret I Gibson, Sarah Soden, Neil Miller, Isabelle Thiffault, Carol Saunders, Shuhei Yamada, Katrin Hoffmann, Kazuyuki Sugahara, Emily Farrow1
