Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia

Bone

Volumn 68, Issue , 2014, Pages 142-145

  Gannagé Yared, Marie Hélène ^a   Makrythanasis, Periklis ^b,c   Chouery, Eliane ^a   Sobacchi, Cristina ^d,e   Mehawej, Cybel ^a   Santoni, Federico A ^b   Guipponi, Michel ^c   Antonarakis, Stylianos E ^b,c,f   Hamamy, Hanan ^b   Mégarbané, André ^a,g  

^a SAINT JOSEPH UNIVERSITY   (Lebanon)

^b UNIVERSITY OF GENEVA   (Switzerland)

^c GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^d CNR   (Italy)

^e HUMANITAS CLINICAL AND RESEARCH CENTER   (Italy)

^f Institute of Genetics and Genomics of Geneva   (Switzerland)

^g Institut JérÔme Lejeune   (France)

Author keywords

DMP1; Exome; Sclerosing bone dysplasia

Indexed keywords

ADENINE; CALCIUM; DENTIN MATRIX PROTEIN 1; FIBROBLAST GROWTH FACTOR 23; GUANINE; METHIONINE; PARATHYROID HORMONE; PHOSPHORUS; VALINE; DMP1 PROTEIN, HUMAN; PHOSPHOPROTEIN; SCLEROPROTEIN;

ADULT; ALBERS SCHOENBERG DISEASE; ARTICLE; AUTOSOMAL RECESSIVE HYPOPHOSPHATEMIC RICKETS; BONE DENSITY; CALCIUM BLOOD LEVEL; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CONSANGUINITY; DISEASE SEVERITY; DMP1 GENE; EXOME; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENOTYPE; HOMOZYGOTE; HUMAN; HYPEROSTOSIS; HYPOPHOSPHATEMIC RICKETS; LEBANESE; MIDDLE AGED; NUCLEOTIDE SEQUENCE; PHOSPHATE BLOOD LEVEL; PROTEIN BLOOD LEVEL; SHORT STATURE; START CODON; VARUS KNEE; BLOOD; CHONDRODYSPLASIA; FAMILY; GENETICS; MOLECULAR GENETICS; MUTATION; RADIOGRAPHY; URINE;

ADULT; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; EXOME; EXTRACELLULAR MATRIX PROTEINS; FAMILY; FEMALE; HUMANS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; OSTEOCHONDRODYSPLASIAS; PHOSPHOPROTEINS;

EID: 84909968141     PISSN: 87563282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bone.2014.08.014     Document Type: Article

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