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2012 | 1 |
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Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta.
Hum Mutat. 2012 Feb;33(2):343-50. doi: 10.1002/humu.21647. Epub 2011 Nov 30.
Hum Mutat. 2012.
PMID: 22052668
Free PMC article.
Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects.
Valencia M, Caparrós-Martin JA, Sirerol-Piquer MS, García-Verdugo JM, Martínez-Glez V, Lapunzina P, Temtamy S, Aglan M, Lund AM, Nikkels PG, Ruiz-Perez VL, Ostergaard E.
Valencia M, et al.
Am J Med Genet A. 2014 May;164A(5):1143-50. doi: 10.1002/ajmg.a.36427. Epub 2014 Mar 19.
Am J Med Genet A. 2014.
PMID: 24648371
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