Llwytho...
Identification of a Mutation Causing Deficient BMP1/mTLD Proteolytic Activity in Autosomal Recessive Osteogenesis Imperfecta
Herein, we have studied a consanguineous Egyptian family with two children diagnosed with severe autosomal recessive osteogenesis imperfecta (AR-OI) and a large umbilical hernia. Homozygosity mapping in this family showed lack of linkage to any of the previously known AR-OI genes, but revealed a 10....
Wedi'i Gadw mewn:
| Prif Awduron: | , , , , , , , , , , , , |
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| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
2011
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3725821/ https://ncbi.nlm.nih.gov/pubmed/22052668 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21647 |
| Tagiau: |
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