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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....

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Autors principals: Martínez-Glez, Víctor, Valencia, Maria, Caparrós-Martín, José A., Aglan, Mona, Temtamy, Samia, Tenorio, Jair, Pulido, Veronica, Lindert, Uschi, Rohrbach, Marianne, Eyre, David, Giunta, Cecilia, Lapunzina, Pablo, Ruiz-Perez, Victor L.
Format: Artigo
Idioma:Inglês
Publicat: 2011
Matèries:
Accés en línia: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
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