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

American Journal of Medical Genetics, Part A

Volumn 164, Issue 5, 2014, Pages 1143-1150

  Valencia, María ^a   Caparrós Martin, Jose A ^a,b   Sirerol Piquer, María Salomé ^c   García Verdugo, José Manuel ^c   Martínez Glez, Víctor ^b,d   Lapunzina, Pablo ^b,d   Temtamy, Samia ^e   Aglan, Mona ^e   Lund, Allan M ^f   Nikkels, Peter G J ^g   Ruiz Perez, Victor L ^a,b   Ostergaard, Elsebet ^f  

^a CSIC   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c UNIVERSITY OF VALENCIA   (Spain)

^d HOSPITAL UNIVERSITARIO LA PAZ IDIPAZ   (Spain)

^e NATIONAL RESEARCH CENTRE   (Egypt)

^f University of Copenhagen   (Denmark)

^g UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

BMP1; Bone development; Extracellular matrix; Osteogenesis imperfecta; Type I collagen

Indexed keywords

ALKALINE PHOSPHATASE; BISPHOSPHONIC ACID DERIVATIVE; CALCIUM; COLLAGEN FIBRIL; PARATHYROID HORMONE; PHOSPHATE; PROCOLLAGEN C PROTEINASE; UNCLASSIFIED DRUG; VITAMIN D; ZOLENDRONIC ACID;

ALKALINE PHOSPHATASE BLOOD LEVEL; AMINO TERMINAL SEQUENCE; ARTICLE; BMP1 GENE; BONE DENSITOMETRY; BONE DENSITY; CALCIUM BLOOD LEVEL; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CONTROLLED STUDY; ELECTRON MICROSCOPY; EXTRACELLULAR MATRIX; FEMUR FRACTURE; FLUORESCENCE MICROSCOPY; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MALE; NUCLEOTIDE SEQUENCE; OSTEOGENESIS IMPERFECTA; PARATHYROID HORMONE BLOOD LEVEL; PATHOGENESIS; PHOSPHATE BLOOD LEVEL; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN PROCESSING; RIB FRACTURE; SKIN FIBROBLAST; ULTRASTRUCTURE; VITAMIN SUPPLEMENTATION; WESTERN BLOTTING;

EID: 84898627419     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36427     Document Type: Article

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