Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype-Reference-Cited by-同舟云学术

Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype

Published:2016-11-21 Issue:1 Volume:17 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Job Florian,Mizumoto Shuji,Smith Laurie,Couser Natario,Brazil Ashley,Saal Howard,Patterson Melanie,Gibson Margaret I.,Soden Sarah,Miller Neil,Thiffault Isabelle,Saunders Carol,Yamada Shuhei,Hoffmann Katrin,Sugahara Kazuyuki,Farrow Emily^ORCID

Funder

Japan Society for the Promotion of Science London

Japan Agency for Medical Research and Development

Research Institute of Meijo

Nakatomi Foundation

Marion Merrell Dow Foundation

William T. Kemper Foundation

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-016-0344-9.pdf

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5. Sugahara K, Mikami T, Uyama T, Mizuguchi S, Nomura K, Kitagawa H. Recent advances in the structural biology of chondroitin sulfate and dermatan sulfate. Curr Opin Struct Biol. 2003;13(5):612–20.

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