Literature for peptidase M12.005: procollagen C-peptidase

(References are filtered for relevance to Mutation. To remove the filter click here. See explanation.)

2017
1. Sangsin,A., Kuptanon,C., Srichomthong,C., Pongpanich,M., Suphapeetiporn,K. and Shotelersuk,V.
   Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: a case report
   BMC Med Genet18, 25-25. PubMed  Europe PubMed DOI  M
2015
2. Syx,D., Guillemyn,B., Symoens,S., Sousa,A.B., Medeira,A., Whiteford,M., Hermanns-Le,T., Coucke,P.J., De Paepe,A. and Malfait,F.
   Defective proteolytic processing of fibrillar procollagens and prodecorin due to biallelic BMP1 mutations results in a severe, progressive form of osteogenesis imperfecta
   J Bone Miner Res30, 1445-1456. PubMed  Europe PubMed DOI  M
2014
3. Valencia,M., Caparros-Martin,J.A., Sirerol-Piquer,M.S., Garcia-Verdugo,J.M., Martinez-Glez,V., Lapunzina,P., Temtamy,S., Aglan,M., Lund,A.M., Nikkels,P.G., Ruiz-Perez,V.L. and Ostergaard,E.
   Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects
   Am J Med Genet A164A, 1143-1150. PubMed  Europe PubMed DOI  M
2012
4. Asharani,P.V., Keupp,K., Semler,O., Wang,W., Li,Y., Thiele,H., Yigit,G., Pohl,E., Becker,J., Frommolt,P., Sonntag,C., Altmuller,J., Zimmermann,K., Greenspan,D.S., Akarsu,N.A., Netzer,C., Schonau,E., Wirth,R., Hammerschmidt,M., Nurnberg,P., Wollnik,B. and Carney,T.J.
   Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish
   Am J Hum Genet90, 661-674. PubMed  Europe PubMed DOI  M
5. Martinez-Glez,V., Valencia,M., Caparros-Martin,J.A., Aglan,M., Temtamy,S., Tenorio,J., Pulido,V., Lindert,U., Rohrbach,M., Eyre,D., Giunta,C., Lapunzina,P. and Ruiz-Perez,V.L.
   Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta
   Hum Mutat33, 343-350. PubMed  Europe PubMed DOI  M