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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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2011
Gaiak:
Article
Sarrera elektronikoa: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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