Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects

6533b821fe1ef96bd127aede

RESEARCH PRODUCT

Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects

Allan M. Lund María Salomé Sirerol-piquer María Valencia Elsebet Ostergaard Samia A. Temtamy Pablo Lapunzina Pablo Lapunzina Victor L. Ruiz-perez Victor L. Ruiz-perez Peter G. J. Nikkels José A. Caparrós-martín José A. Caparrós-martín Victor Martinez-glez Victor Martinez-glez José Manuel García-verdugo Mona Aglan

subject

Male Biology Bone and Bones Collagen Type I Bone morphogenetic protein 1 Bone Morphogenetic Protein 1 Extracellular matrix Western blot Bone Density Genetics medicine Humans Protein precursor Genetics (clinical)medicine.diagnostic_test Infant Newborn Infant Fibroblasts Osteogenesis Imperfecta medicine.disease Molecular biology Extracellular Matrix Radiography Procollagen peptidase Collagen type I alpha 1 Phenotype Osteogenesis imperfecta Mutation Type I collagen

description

et al.

year	journal	country	edition	language
2014-01-01

http://hdl.handle.net/10261/124237

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