Identification of the first deletion in the LRP5 gene in a patient with Autosomal Dominant Osteopetrosis type I

Bone

Volumn 49, Issue 3, 2011, Pages 568-571

  Pangrazio, Alessandra ^a,b   Boudin, Eveline ^c   Piters, Elke ^c   Damante, Giuseppe ^d   Iacono, Nadia Lo ^a,b   D'Elia, Angela Valentina ^d   Vezzoni, Paolo ^a,b   Van Hul, Wim ^c   Villa, Anna ^a,b   Sobacchi, Cristina ^a,b  

^a Milan Unit   (Italy)

^b HUMANITAS CLINICAL AND RESEARCH CENTER   (Italy)

^c UNIVERSITY OF ANTWERP   (Belgium)

^d UNIVERSITY HOSPITAL OF UDINE   (Italy)

Author keywords

Bone; LRP5; Osteopetrosis; Osteosclerosis; Wnt signalling

Indexed keywords

GLUTAMIC ACID; GLYCINE; LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN 5; PARATHYROID HORMONE;

ADOLESCENT; ADULT; ALBERS SCHOENBERG DISEASE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT OSTEOPETROSIS TYPE I; BLINDNESS; BONE DENSITY; BONE PAIN; CASE REPORT; CELL STRAIN HEK293; CONTROLLED STUDY; EAR INFECTION; FAMILY HISTORY; FEMALE; GENE; GENE DELETION; HEADACHE; HEARING IMPAIRMENT; HUMAN; HUMAN CELL; LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN 5 GENE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OSTEOSARCOMA CELL; VISUAL IMPAIRMENT;

BASE SEQUENCE; CELL LINE; FEMALE; HUMANS; LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN-5; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; OSTEOPETROSIS; SEQUENCE DELETION;

EID: 79960615546     PISSN: 87563282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bone.2011.05.006     Document Type: Article

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