Llwytho...
As Little as Needed: The Extraordinary Case of a Mild Recessive Osteopetrosis Owing to a Novel Splicing Hypomorphic Mutation in the TCIRG1 Gene†
Mutations in the TCIRG1 gene, coding for a subunit of the osteoclast proton pump, are responsible for more than 50% of cases of human malignant autosomal recessive osteopetrosis (ARO), a rare inherited bone disease with increased bone density owing to a failure in bone resorption. A wide variety of...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | J Bone Miner Res |
|---|---|
| Prif Awduron: | , , , , , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
BlackWell Publishing Ltd
2014
|
| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4258090/ https://ncbi.nlm.nih.gov/pubmed/24535816 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jbmr.2203 |
| Tagiau: |
Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!
|