Introduction of a Phe377del mutation in ANK creates a mouse model for craniometaphyseal dysplasia

Journal of Bone and Mineral Research

Volumn 24, Issue 7, 2009, Pages 1206-1215

  Chen, I Ping ^a   Wang, Chiachien J ^a   Strecker, Sara ^a   Koczon Jaremko, Boguslawa ^a   Boskey, Adele ^b   Reichenberger, Ernst J ^a  

^a UNIVERSITY OF CONNECTICUT HEALTH CENTER   (United States)

^b HOSPITAL FOR SPECIAL SURGERY   (United States)

Author keywords

Ank; Biochemical marker; Craniometaphyseal dysplasia; Genetic disorder; Skeletal phenotype

Indexed keywords

ALKALINE PHOSPHATASE; BIOCHEMICAL MARKER; COLLAGEN TYPE 1; PHENYLALANINE; PROCOLLAGEN;

ALKALINE PHOSPHATASE BLOOD LEVEL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; AUDITORY OSSICLE; BONE DYSPLASIA; BONE MARROW; BONE MATRIX; CONTROLLED STUDY; CRANIOMETAPHYSEAL DYSPLASIA; CROSS LINKING; FEMUR; GENE DELETION; GENE MUTATION; HYPEROSTOSIS; JAW; KNOCKOUT MOUSE; MACROPHAGE; MALE; METAPHYSIS; MOUSE; MUTATION; NONHUMAN; OSSIFICATION; OSTEOLYSIS; PARANASAL SINUS; PHENOTYPE;

ACID PHOSPHATASE; ALKALINE PHOSPHATASE; ANIMALS; BONE DISEASES, DEVELOPMENTAL; COLLAGEN TYPE I; DISEASE MODELS, ANIMAL; HUMANS; ISOENZYMES; MACROPHAGES; MEMBRANE PROTEINS; MICE; MICE, TRANSGENIC; SEQUENCE DELETION; SKULL;

EID: 70349160427     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1359/jbmr.090218     Document Type: Article

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