Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta-Reference-Cited by-同舟云学术

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

Published:2011-11-30 Issue:2 Volume:33 Page:343-350
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

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.

Funder

Spanish Ministry of Science and Innovation (SAF-17901)

CIBERER Programa de Investigación de Enfermedades Pediátricas

Gottfried und Julia Bangerter-Rhyner Stiftung (to C.G. and M.R.)

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.21647/fullpdf

Reference40 articles.

1. Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta;Alanay;Am J Hum Genet,2010

2. Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta;Barnes;N Engl J Med,2006

3. Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta;Becker;Am J Hum Genet,2011

4. The astacin family of metalloendopeptidases;Bond;Protein Sci,1995

5. Enzymatic cleavage specificity of the proalpha1(V) chain processing analysed by site-directed mutagenesis;Bonod-Bidaud;Biochem J,2007

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